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GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) AND not specified

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 1, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002053853.3

Allele description [Variation Report for GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)]

GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)

Genes:
  • ALG2:ALG2 alpha-1,3/1,6-mannosyltransferase [Gene - OMIM - HGNC]
  • AKNA:AT-hook transcription factor [Gene - OMIM - HGNC]
  • ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
  • AGTPBP1:ATP/GTP binding carboxypeptidase 1 [Gene - OMIM - HGNC]
  • ATP6V1G1:ATPase H+ transporting V1 subunit G1 [Gene - OMIM - HGNC]
  • AUH:AU RNA binding methylglutaconyl-CoA hydratase [Gene - OMIM - HGNC]
  • BSPRY:B-box and SPRY domain containing [Gene - OMIM - HGNC]
  • BARX1:BARX homeobox 1 [Gene - OMIM - HGNC]
  • BICD2:BICD cargo adaptor 2 [Gene - OMIM - HGNC]
  • BRINP1:BMP/retinoic acid inducible neural specific 1 [Gene - OMIM - HGNC]
  • BANCR:BRAF-activated non-protein coding RNA [Gene - OMIM - HGNC]
  • CARNMT1-AS1:CARNMT1 antisense RNA 1 [Gene - HGNC]
  • CKS2:CDC28 protein kinase regulatory subunit 2 [Gene - OMIM - HGNC]
  • DAPK1-IT1:DAPK1 intronic transcript 1 [Gene - HGNC]
  • DIRAS2:DIRAS family GTPase 2 [Gene - OMIM - HGNC]
  • POLE3:DNA polymerase epsilon 3, accessory subunit [Gene - OMIM - HGNC]
  • DNAJC25-GNG10:DNAJC25-GNG10 readthrough [Gene - HGNC]
  • DNAJC25:DnaJ heat shock protein family (Hsp40) member C25 [Gene - HGNC]
  • ERCC6L2:ERCC excision repair 6 like 2 [Gene - OMIM - HGNC]
  • ECPAS:Ecm29 proteasome adaptor and scaffold [Gene - OMIM - HGNC]
  • FANCC:FA complementation group C [Gene - OMIM - HGNC]
  • FRMD3:FERM domain containing 3 [Gene - OMIM - HGNC]
  • FKBP15:FKBP prolyl isomerase family member 15 [Gene - OMIM - HGNC]
  • FGD3:FYVE, RhoGEF and PH domain containing 3 [Gene - OMIM - HGNC]
  • GKAP1:G kinase anchoring protein 1 [Gene - OMIM - HGNC]
  • GNA14:G protein subunit alpha 14 [Gene - OMIM - HGNC]
  • GNAQ:G protein subunit alpha q [Gene - OMIM - HGNC]
  • GNG10:G protein subunit gamma 10 [Gene - OMIM - HGNC]
  • IDNK:IDNK gluconokinase [Gene - OMIM - HGNC]
  • INIP:INTS3 and NABP interacting protein [Gene - OMIM - HGNC]
  • KIAA1958:KIAA1958 [Gene - OMIM - HGNC]
  • KLF4:KLF transcription factor 4 [Gene - OMIM - HGNC]
  • KLF9:KLF transcription factor 9 [Gene - OMIM - HGNC]
  • MAMDC2:MAM domain containing 2 [Gene - OMIM - HGNC]
  • MSANTD3-TMEFF1:MSANTD3-TMEFF1 readthrough [Gene - HGNC]
  • MSANTD3:Myb/SANT DNA binding domain containing 3 [Gene - HGNC]
  • NANS:N-acetylneuraminate synthase [Gene - OMIM - HGNC]
  • NAA35:N-alpha-acetyltransferase 35, NatC auxiliary subunit [Gene - OMIM - HGNC]
  • NUTM2F:NUT family member 2F [Gene - HGNC]
  • NUTM2G:NUT family member 2G [Gene - HGNC]
  • PALM2AKAP2:PALM2 and AKAP2 fusion [Gene - OMIM - HGNC]
  • PAPPA-AS1:PAPPA antisense RNA 1 [Gene - OMIM - HGNC]
  • PHF2:PHD finger protein 2 [Gene - OMIM - HGNC]
  • PABIR1:PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 [Gene - OMIM - HGNC]
  • QNG1:Q-nucleotide N-glycosylase 1 [Gene - OMIM - HGNC]
  • RAD23B:RAD23 homolog B, nucleotide excision repair protein [Gene - OMIM - HGNC]
  • RORB:RAR related orphan receptor B [Gene - OMIM - HGNC]
  • RASEF:RAS and EF-hand domain containing [Gene - OMIM - HGNC]
  • RMI1:RecQ mediated genome instability 1 [Gene - OMIM - HGNC]
  • SEC61B:SEC61 translocon subunit beta [Gene - OMIM - HGNC]
  • SECISBP2:SECIS binding protein 2 [Gene - OMIM - HGNC]
  • SHC3:SHC adaptor protein 3 [Gene - OMIM - HGNC]
  • SPATA31C1:SPATA31 subfamily C member 1 [Gene - HGNC]
  • SPATA31C2:SPATA31 subfamily C member 2 [Gene - HGNC]
  • SPATA31D1:SPATA31 subfamily D member 1 [Gene - HGNC]
  • SPATA31D3:SPATA31 subfamily D member 3 [Gene - HGNC]
  • SPATA31D4:SPATA31 subfamily D member 4 [Gene - HGNC]
  • SPATA31E1:SPATA31 subfamily E member 1 [Gene - HGNC]
  • TAL2:TAL bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • TBC1D2:TBC1 domain family member 2 [Gene - OMIM - HGNC]
  • TLE1:TLE family member 1, transcriptional corepressor [Gene - OMIM - HGNC]
  • TLE4:TLE family member 4, transcriptional corepressor [Gene - OMIM - HGNC]
  • TNFSF15:TNF superfamily member 15 [Gene - OMIM - HGNC]
  • TNFSF8:TNF superfamily member 8 [Gene - OMIM - HGNC]
  • UGCG:UDP-glucose ceramide glucosyltransferase [Gene - OMIM - HGNC]
  • WDR31:WD repeat domain 31 [Gene - HGNC]
  • WNK2:WNK lysine deficient protein kinase 2 [Gene - OMIM - HGNC]
  • XPA:XPA, DNA damage recognition and repair factor [Gene - OMIM - HGNC]
  • ZFP37:ZFP37 zinc finger protein [Gene - OMIM - HGNC]
  • ABHD17B:abhydrolase domain containing 17B, depalmitoylase [Gene - OMIM - HGNC]
  • ANP32B:acidic nuclear phosphoprotein 32 family member B [Gene - OMIM - HGNC]
  • ABITRAM:actin binding transcription modulator [Gene - HGNC]
  • ACTL7A:actin like 7A [Gene - OMIM - HGNC]
  • ACTL7B:actin like 7B [Gene - OMIM - HGNC]
  • ALDH1A1:aldehyde dehydrogenase 1 family member A1 [Gene - OMIM - HGNC]
  • ALDOB:aldolase, fructose-bisphosphate B [Gene - OMIM - HGNC]
  • AMBP:alpha-1-microglobulin/bikunin precursor [Gene - OMIM - HGNC]
  • ALAD:aminolevulinate dehydratase [Gene - OMIM - HGNC]
  • AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
  • APBA1:amyloid beta precursor protein binding family A member 1 [Gene - OMIM - HGNC]
  • ANKS6:ankyrin repeat and sterile alpha motif domain containing 6 [Gene - OMIM - HGNC]
  • ANXA1:annexin A1 [Gene - OMIM - HGNC]
  • ASPN:asporin [Gene - OMIM - HGNC]
  • ASTN2:astrotactin 2 [Gene - OMIM - HGNC]
  • BAAT:bile acid-CoA:amino acid N-acyltransferase [Gene - OMIM - HGNC]
  • CARNMT1:carnosine N-methyltransferase 1 [Gene - OMIM - HGNC]
  • CARD19:caspase recruitment domain family member 19 [Gene - OMIM - HGNC]
  • CTNNAL1:catenin alpha like 1 [Gene - OMIM - HGNC]
  • CTSL:cathepsin L [Gene - OMIM - HGNC]
  • CTSV:cathepsin V [Gene - OMIM - HGNC]
  • CAVIN4:caveolae associated protein 4 [Gene - OMIM - HGNC]
  • CDC14B:cell division cycle 14B [Gene - OMIM - HGNC]
  • CDC26:cell division cycle 26 [Gene - OMIM - HGNC]
  • CEMIP2:cell migration inducing hyaluronidase 2 [Gene - OMIM - HGNC]
  • CENPP:centromere protein P [Gene - OMIM - HGNC]
  • CEP78:centrosomal protein 78 [Gene - OMIM - HGNC]
  • C9orf152:chromosome 9 open reading frame 152 [Gene - HGNC]
  • C9orf153:chromosome 9 open reading frame 153 [Gene - HGNC]
  • C9orf40:chromosome 9 open reading frame 40 [Gene - HGNC]
  • C9orf43:chromosome 9 open reading frame 43 [Gene - HGNC]
  • C9orf47:chromosome 9 open reading frame 47 [Gene - HGNC]
  • C9orf57:chromosome 9 open reading frame 57 [Gene - HGNC]
  • C9orf85:chromosome 9 open reading frame 85 [Gene - HGNC]
  • CFAP95:cilia and flagella associated protein 95 [Gene - HGNC]
  • CCDC180:coiled-coil domain containing 180 [Gene - HGNC]
  • COL15A1:collagen type XV alpha 1 chain [Gene - OMIM - HGNC]
  • COL27A1:collagen type XXVII alpha 1 chain [Gene - OMIM - HGNC]
  • CORO2A:coronin 2A [Gene - OMIM - HGNC]
  • CDK20:cyclin dependent kinase 20 [Gene - OMIM - HGNC]
  • CYLC2:cylicin 2 [Gene - OMIM - HGNC]
  • DAPK1:death associated protein kinase 1 [Gene - OMIM - HGNC]
  • DELEC1:deleted in esophageal cancer 1 [Gene - OMIM - HGNC]
  • ELP1:elongator acetyltransferase complex subunit 1 [Gene - OMIM - HGNC]
  • ERP44:endoplasmic reticulum protein 44 [Gene - OMIM - HGNC]
  • ENTREP1:endosomal transmembrane epsin interactor 1 [Gene - OMIM - HGNC]
  • EPB41L4B:erythrocyte membrane protein band 4.1 like 4B [Gene - OMIM - HGNC]
  • ECM2:extracellular matrix protein 2 [Gene - OMIM - HGNC]
  • FAM120AOS:family with sequence similarity 120A opposite strand [Gene - HGNC]
  • FAM120A:family with sequence similarity 120A [Gene - OMIM - HGNC]
  • FRRS1L:ferric chelate reductase 1 like [Gene - OMIM - HGNC]
  • FSD1L:fibronectin type III and SPRY domain containing 1 like [Gene - OMIM - HGNC]
  • FOXB2:forkhead box B2 [Gene - OMIM - HGNC]
  • FOXE1:forkhead box E1 [Gene - OMIM - HGNC]
  • FXN:frataxin [Gene - OMIM - HGNC]
  • FBP1:fructose-bisphosphatase 1 [Gene - OMIM - HGNC]
  • FBP2:fructose-bisphosphatase 2 [Gene - OMIM - HGNC]
  • FKTN:fukutin [Gene - OMIM - HGNC]
  • GABBR2:gamma-aminobutyric acid type B receptor subunit 2 [Gene - OMIM - HGNC]
  • GCNT1:glucosaminyl (N-acetyl) transferase 1 [Gene - OMIM - HGNC]
  • GRIN3A:glutamate ionotropic receptor NMDA type subunit 3A [Gene - OMIM - HGNC]
  • GOLM1:golgi membrane protein 1 [Gene - OMIM - HGNC]
  • GADD45G:growth arrest and DNA damage inducible gamma [Gene - OMIM - HGNC]
  • GAS1:growth arrest specific 1 [Gene - OMIM - HGNC]
  • GDA:guanine deaminase [Gene - OMIM - HGNC]
  • HDHD3:haloacid dehalogenase like hydrolase domain containing 3 [Gene - HGNC]
  • HEMGN:hemogen [Gene - OMIM - HGNC]
  • HNRNPK:heterogeneous nuclear ribonucleoprotein K [Gene - OMIM - HGNC]
  • HABP4:hyaluronan binding protein 4 [Gene - OMIM - HGNC]
  • HSD17B3:hydroxysteroid 17-beta dehydrogenase 3 [Gene - OMIM - HGNC]
  • HSDL2:hydroxysteroid dehydrogenase like 2 [Gene - HGNC]
  • IPPK:inositol-pentakisphosphate 2-kinase [Gene - OMIM - HGNC]
  • INVS:inversin [Gene - OMIM - HGNC]
  • ISCA1:iron-sulfur cluster assembly 1 [Gene - OMIM - HGNC]
  • IARS1:isoleucyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • KIF12:kinesin family member 12 [Gene - OMIM - HGNC]
  • KIF27:kinesin family member 27 [Gene - OMIM - HGNC]
  • LINC02872:long intergenic non-protein coding RNA 2872 [Gene - HGNC]
  • LPAR1:lysophosphatidic acid receptor 1 [Gene - OMIM - HGNC]
  • MFSD14B:major facilitator superfamily domain containing 14B [Gene - HGNC]
  • MIR204:microRNA 204 [Gene - OMIM - HGNC]
  • MIR23B:microRNA 23b [Gene - OMIM - HGNC]
  • MIR24-1:microRNA 24-1 [Gene - OMIM - HGNC]
  • MIR27B:microRNA 27b [Gene - OMIM - HGNC]
  • MIR32:microRNA 32 [Gene - OMIM - HGNC]
  • MIR7-1:microRNA 7-1 [Gene - OMIM - HGNC]
  • MIRLET7A1:microRNA let-7a-1 [Gene - OMIM - HGNC]
  • MIRLET7D:microRNA let-7d [Gene - OMIM - HGNC]
  • MIRLET7F1:microRNA let-7f-1 [Gene - OMIM - HGNC]
  • MRPL50:mitochondrial ribosomal protein L50 [Gene - OMIM - HGNC]
  • MUSK:muscle associated receptor tyrosine kinase [Gene - OMIM - HGNC]
  • NTRK2:neurotrophic receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
  • NMRK1:nicotinamide riboside kinase 1 [Gene - OMIM - HGNC]
  • NINJ1:ninjurin 1 [Gene - OMIM - HGNC]
  • NIPSNAP3A:nipsnap homolog 3A [Gene - OMIM - HGNC]
  • NIPSNAP3B:nipsnap homolog 3B [Gene - OMIM - HGNC]
  • NCBP1:nuclear cap binding protein subunit 1 [Gene - OMIM - HGNC]
  • NFIL3:nuclear factor, interleukin 3 regulated [Gene - OMIM - HGNC]
  • NR4A3:nuclear receptor subfamily 4 group A member 3 [Gene - OMIM - HGNC]
  • NOL8:nucleolar protein 8 [Gene - OMIM - HGNC]
  • NXNL2:nucleoredoxin like 2 [Gene - OMIM - HGNC]
  • OR13C2:olfactory receptor family 13 subfamily C member 2 [Gene - HGNC]
  • OR13C3:olfactory receptor family 13 subfamily C member 3 [Gene - HGNC]
  • OR13C4:olfactory receptor family 13 subfamily C member 4 [Gene - HGNC]
  • OR13C5:olfactory receptor family 13 subfamily C member 5 [Gene - HGNC]
  • OR13C8:olfactory receptor family 13 subfamily C member 8 [Gene - HGNC]
  • OR13C9:olfactory receptor family 13 subfamily C member 9 [Gene - HGNC]
  • OR13D1:olfactory receptor family 13 subfamily D member 1 [Gene - HGNC]
  • OR13F1:olfactory receptor family 13 subfamily F member 1 [Gene - HGNC]
  • OR2K2:olfactory receptor family 2 subfamily K member 2 [Gene - HGNC]
  • ORM1:orosomucoid 1 [Gene - OMIM - HGNC]
  • ORM2:orosomucoid 2 [Gene - OMIM - HGNC]
  • OSTF1:osteoclast stimulating factor 1 [Gene - OMIM - HGNC]
  • OGN:osteoglycin [Gene - OMIM - HGNC]
  • OMD:osteomodulin [Gene - OMIM - HGNC]
  • PAPPA:pappalysin 1 [Gene - OMIM - HGNC]
  • PALM2:paralemmin 2 [Gene - HGNC]
  • PTCH1:patched 1 [Gene - OMIM - HGNC]
  • PRXL2C:peroxiredoxin like 2C [Gene - HGNC]
  • PIP5K1B:phosphatidylinositol-4-phosphate 5-kinase type 1 beta [Gene - OMIM - HGNC]
  • PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]
  • GALNT12:polypeptide N-acetylgalactosaminyltransferase 12 [Gene - OMIM - HGNC]
  • PTBP3:polypyrimidine tract binding protein 3 [Gene - OMIM - HGNC]
  • PGAP4:post-GPI attachment to proteins GalNAc transferase 4 [Gene - OMIM - HGNC]
  • PRPF4:pre-mRNA processing factor 4 [Gene - OMIM - HGNC]
  • PCSK5:proprotein convertase subtilisin/kexin type 5 [Gene - OMIM - HGNC]
  • PTGR1:prostaglandin reductase 1 [Gene - OMIM - HGNC]
  • PCA3:prostate cancer associated 3 [Gene - OMIM - HGNC]
  • PRKACG:protein kinase cAMP-activated catalytic subunit gamma [Gene - OMIM - HGNC]
  • PPP3R2:protein phosphatase 3 regulatory subunit B, beta [Gene - OMIM - HGNC]
  • PTAR1:protein prenyltransferase alpha subunit repeat containing 1 [Gene - HGNC]
  • PTPDC1:protein tyrosine phosphatase domain containing 1 [Gene - HGNC]
  • PTPN3:protein tyrosine phosphatase non-receptor type 3 [Gene - OMIM - HGNC]
  • PRUNE2:prune homolog 2 with BCH domain [Gene - OMIM - HGNC]
  • ROR2:receptor tyrosine kinase like orphan receptor 2 [Gene - OMIM - HGNC]
  • RGS3:regulator of G protein signaling 3 [Gene - OMIM - HGNC]
  • RFK:riboflavin kinase [Gene - OMIM - HGNC]
  • RNF183:ring finger protein 183 [Gene - HGNC]
  • RNF20:ring finger protein 20 [Gene - OMIM - HGNC]
  • SEMA4D:semaphorin 4D [Gene - OMIM - HGNC]
  • SPTLC1:serine palmitoyltransferase long chain base subunit 1 [Gene - OMIM - HGNC]
  • PRSS47:serine protease 47 [Gene - HGNC]
  • SHOC1:shortage in chiasmata 1 [Gene - OMIM - HGNC]
  • SLC28A3:solute carrier family 28 member 3 [Gene - OMIM - HGNC]
  • SLC31A1:solute carrier family 31 member 1 [Gene - OMIM - HGNC]
  • SLC31A2:solute carrier family 31 member 2 [Gene - OMIM - HGNC]
  • SLC35D2:solute carrier family 35 member D2 [Gene - OMIM - HGNC]
  • SLC44A1:solute carrier family 44 member 1 [Gene - OMIM - HGNC]
  • SLC46A2:solute carrier family 46 member 2 [Gene - OMIM - HGNC]
  • SNX30:sorting nexin family member 30 [Gene - HGNC]
  • S1PR3:sphingosine-1-phosphate receptor 3 [Gene - OMIM - HGNC]
  • SPIN1:spindlin 1 [Gene - OMIM - HGNC]
  • SYK:spleen associated tyrosine kinase [Gene - OMIM - HGNC]
  • SMC2:structural maintenance of chromosomes 2 [Gene - OMIM - HGNC]
  • SMC5:structural maintenance of chromosomes 5 [Gene - OMIM - HGNC]
  • SUSD1:sushi domain containing 1 [Gene - HGNC]
  • SUSD3:sushi domain containing 3 [Gene - OMIM - HGNC]
  • SVEP1:sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Gene - OMIM - HGNC]
  • STX17:syntaxin 17 [Gene - OMIM - HGNC]
  • TRMO:tRNA methyltransferase O [Gene - HGNC]
  • TNC:tenascin C [Gene - OMIM - HGNC]
  • TUT7:terminal uridylyl transferase 7 [Gene - OMIM - HGNC]
  • TEX10:testis expressed 10 [Gene - OMIM - HGNC]
  • TXNDC8:thioredoxin domain containing 8 [Gene - OMIM - HGNC]
  • TXN:thioredoxin [Gene - OMIM - HGNC]
  • TSTD2:thiosulfate sulfurtransferase like domain containing 2 [Gene - HGNC]
  • TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
  • TLR4:toll like receptor 4 [Gene - OMIM - HGNC]
  • TGFBR1:transforming growth factor beta receptor 1 [Gene - OMIM - HGNC]
  • TRPM3:transient receptor potential cation channel subfamily M member 3 [Gene - OMIM - HGNC]
  • TRPM6:transient receptor potential cation channel subfamily M member 6 [Gene - OMIM - HGNC]
  • TMC1:transmembrane channel like 1 [Gene - OMIM - HGNC]
  • TMEM245:transmembrane protein 245 [Gene - OMIM - HGNC]
  • TMEM268:transmembrane protein 268 [Gene - HGNC]
  • TMEM38B:transmembrane protein 38B [Gene - OMIM - HGNC]
  • TMEFF1:transmembrane protein with EGF like and two follistatin like domains 1 [Gene - OMIM - HGNC]
  • TRIM14:tripartite motif containing 14 [Gene - OMIM - HGNC]
  • TRIM32:tripartite motif containing 32 [Gene - OMIM - HGNC]
  • TMOD1:tropomodulin 1 [Gene - OMIM - HGNC]
  • TDRD7:tudor domain containing 7 [Gene - OMIM - HGNC]
  • UBQLN1:ubiquilin 1 [Gene - OMIM - HGNC]
  • VPS13A:vacuolar protein sorting 13 homolog A [Gene - OMIM - HGNC]
  • WHRN:whirlin [Gene - OMIM - HGNC]
  • ZFAND5:zinc finger AN1-type containing 5 [Gene - OMIM - HGNC]
  • ZNF169:zinc finger protein 169 [Gene - OMIM - HGNC]
  • ZNF189:zinc finger protein 189 [Gene - OMIM - HGNC]
  • ZNF367:zinc finger protein 367 [Gene - OMIM - HGNC]
  • ZNF462:zinc finger protein 462 [Gene - OMIM - HGNC]
  • ZNF483:zinc finger protein 483 [Gene - HGNC]
  • ZNF484:zinc finger protein 484 [Gene - HGNC]
  • ZNF510:zinc finger protein 510 [Gene - OMIM - HGNC]
  • ZNF618:zinc finger protein 618 [Gene - OMIM - HGNC]
  • ZNF782:zinc finger protein 782 [Gene - HGNC]
  • ZNF883:zinc finger protein 883 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
9q21.11-33.2
Genomic location:
Chr9: 71349994 - 122603410 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002320649ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)		Likely pathogenic
(Mar 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002320649.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023