ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4485-137T>A

gnomAD frequency: 0.45393  dbSNP: rs2236762
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000191320 SCV000244670 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2846 (African), 0.3668 (European), derived from 1000 genomes (2012-04-30).
GeneKor MSA RCV000585635 SCV000693616 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001696183 SCV001916154 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000585635 SCV001906311 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000585635 SCV001931649 benign not specified no assertion criteria provided clinical testing

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