ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2059C>T (p.Gln687Ter) (rs273898674)

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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) RCV000111755 SCV000299691 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240699 SCV000265858 pathogenic Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Ambry Genetics RCV000216253 SCV000276839 pathogenic Hereditary cancer-predisposing syndrome 2017-05-17 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)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000111755 SCV000296464 pathogenic Breast-ovarian cancer, familial 1 2016-05-06 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111755 SCV000325219 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000216253 SCV000912043 pathogenic Hereditary cancer-predisposing syndrome 2018-02-27 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111755 SCV000144282 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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