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GRCh37/hg19 3q26.33(chr3:180510432-181562798)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 18, 2018
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:
RCV001005492.1

Allele description [Variation Report for GRCh37/hg19 3q26.33(chr3:180510432-181562798)x1]

GRCh37/hg19 3q26.33(chr3:180510432-181562798)x1

Genes:
DNAJC19:DnaJ heat shock protein family (Hsp40) member C19 [Gene - OMIM - HGNC]
FXR1:FMR1 autosomal homolog 1 [Gene - OMIM - HGNC]
SOX2-OT:SOX2 overlapping transcript [Gene - OMIM - HGNC]
SOX2:SRY-box transcription factor 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3q26.33
Genomic location:
Chr3: 180510432 - 181562798 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3q26.33(chr3:180510432-181562798)x1
HGVS:
NC_000003.11:g.(?_180510432)_(181562798_?)del

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
SCV001165038Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Aug 18, 2018) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001165038.1

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

Last Updated: Apr 23, 2022