ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4095T>A (p.Cys1365Ter) (rs80358658)

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Total submissions: 5
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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) RCV000113273 SCV000300707 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Color RCV000447449 SCV000537655 pathogenic Hereditary cancer-predisposing syndrome 2015-03-11 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000113273 SCV000605633 pathogenic Breast-ovarian cancer, familial 2 2015-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000447449 SCV000608263 pathogenic Hereditary cancer-predisposing syndrome 2017-03-17 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)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113273 SCV000146374 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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