ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter) (rs397509284)

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Total submissions: 8
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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) RCV000077624 SCV000300260 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 RCV000166210 SCV000216989 pathogenic Hereditary cancer-predisposing syndrome 2019-04-08 criteria provided, single submitter clinical testing 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 RCV000077624 SCV000326314 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077624 SCV000786437 pathogenic Breast-ovarian cancer, familial 1 2018-04-29 criteria provided, single submitter clinical testing
Color RCV000166210 SCV001352264 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077624 SCV000109427 pathogenic Breast-ovarian cancer, familial 1 2010-12-15 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496513 SCV000587510 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Brotman Baty Institute,University of Washington RCV000077624 SCV001243340 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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