ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.115_116TG[1] (p.Cys39_Asp40delinsTer) (rs80357972)

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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) RCV000077484 SCV000299406 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000162845 SCV000213332 pathogenic Hereditary cancer-predisposing syndrome 2014-09-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077484 SCV000324976 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759490 SCV000888835 pathogenic not provided 2018-03-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077484 SCV000109282 pathogenic Breast-ovarian cancer, familial 1 2010-06-28 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077484 SCV000144356 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735464 SCV000863601 pathogenic Breast and/or ovarian cancer 2009-07-08 no assertion criteria provided clinical testing

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