ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2292_2293AG[2] (p.Glu765_Ser766insTer) (rs80357780)

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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) RCV000019235 SCV000299740 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 RCV000214000 SCV000278032 pathogenic Hereditary cancer-predisposing syndrome 2015-08-18 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 RCV000019235 SCV000325315 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759504 SCV000888862 pathogenic not provided 2018-01-12 criteria provided, single submitter clinical testing
OMIM RCV000019235 SCV000039523 pathogenic Breast-ovarian cancer, familial 1 1994-12-01 no assertion criteria provided literature only
Breast Cancer Information Core (BIC) (BRCA1) RCV000019235 SCV000144370 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000019235 SCV000297592 pathogenic Breast-ovarian cancer, familial 1 2008-07-23 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496882 SCV000587205 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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