ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.*36C>G (rs3092995)

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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) RCV000112709 SCV000244519 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 0.08333 (African), derived from 1000 genomes (2012-04-30).
Michigan Medical Genetics Laboratories,University of Michigan RCV000112709 SCV000195941 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
Counsyl RCV000112709 SCV000220267 benign Breast-ovarian cancer, familial 1 2014-04-23 criteria provided, single submitter literature only
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000211010 SCV000267851 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000112709 SCV000403050 benign Breast-ovarian cancer, familial 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000508443 SCV000602693 benign none provided 2019-10-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112709 SCV000145585 uncertain significance Breast-ovarian cancer, familial 1 2006-07-19 no assertion criteria provided clinical testing

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