ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4097-141A>C (rs799916)

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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) RCV000112254 SCV000244743 benign Breast-ovarian cancer, familial 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), 0.3681 (European), derived from 1000 genomes (2012-04-30).
GeneKor MSA RCV000585641 SCV000693613 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112254 SCV000743397 benign Breast-ovarian cancer, familial 1 2014-10-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112254 SCV000144975 uncertain significance Breast-ovarian cancer, familial 1 2009-08-07 no assertion criteria provided clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000114977 SCV000148877 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.

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