ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.-19-115T>C

gnomAD frequency: 0.30895  dbSNP: rs3765640
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Total submissions: 7
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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) RCV000111495 SCV000244884 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), 0.2154 (African), 0.3602 (European), derived from 1000 genomes (2012-04-30).
GeneKor MSA RCV000585648 SCV000693596 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001610389 SCV001838698 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610389 SCV005251105 benign not provided criteria provided, single submitter not provided
Breast Cancer Information Core (BIC) (BRCA1) RCV000111495 SCV000143937 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2003-11-25 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000585648 SCV001905834 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000585648 SCV001932617 benign not specified no assertion criteria provided clinical testing

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