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GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000849893.2

Allele description [Variation Report for GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3]

GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3

Genes:
  • RILPL1:Rab interacting lysosomal protein like 1 [Gene - OMIM - HGNC]
  • RILPL2:Rab interacting lysosomal protein like 2 [Gene - OMIM - HGNC]
  • CDK2AP1:cyclin dependent kinase 2 associated protein 1 [Gene - OMIM - HGNC]
  • KMT5A:lysine methyltransferase 5A [Gene - OMIM - HGNC]
  • MTRFR:mitochondrial translation release factor in rescue [Gene - OMIM - HGNC]
  • SNRNP35:small nuclear ribonucleoprotein U11/U12 subunit 35 [Gene - OMIM - HGNC]
  • SBNO1:strawberry notch homolog 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12q24.31
Genomic location:
Chr12: 123708501 - 124052117 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000992035Bionano Laboratories
    no assertion criteria provided
    		Uncertain significance
    (Jun 13, 2017)     		unknownclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Bionano Laboratories, SCV000992035.1

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

    Last Updated: Dec 11, 2022