ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2761C>T (p.Gln921Ter) (rs80357377)

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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) RCV000111933 SCV000299829 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 RCV000221485 SCV000277204 pathogenic Hereditary cancer-predisposing syndrome 2014-12-13 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 RCV000111933 SCV000325457 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000111933 SCV000821709 pathogenic Breast-ovarian cancer, familial 1 2018-08-01 criteria provided, single submitter clinical testing
Color RCV000221485 SCV000904993 pathogenic Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111933 SCV000144537 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496230 SCV000587254 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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