ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5823del (p.Val1942fs) (rs80359540)

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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) RCV000113489 SCV000300936 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000217033 SCV000278044 pathogenic Hereditary cancer-predisposing syndrome 2015-08-25 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 RCV000113489 SCV000327290 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
OMIM RCV000009918 SCV000030139 pathogenic Malignant tumor of prostate 2001-03-01 no assertion criteria provided literature only
Breast Cancer Information Core (BIC) (BRCA2) RCV000113489 SCV000146706 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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