ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.442-34C>T (rs799923)

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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) RCV000112677 SCV000244771 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 0.0122 (African), 0.219 (European), derived from 1000 genomes (2012-04-30).
Michigan Medical Genetics Laboratories,University of Michigan RCV000112677 SCV000195883 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503781 SCV000591270 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000503781 SCV000602667 benign not specified 2015-08-21 criteria provided, single submitter clinical testing
Color RCV000580516 SCV000683182 benign Hereditary cancer-predisposing syndrome 2015-03-05 criteria provided, single submitter clinical testing
GeneKor MSA RCV000503781 SCV000693601 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112677 SCV000145543 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing

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