ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5266_5269del (p.Val1756fs)

dbSNP: rs80359501
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Total submissions: 4
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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) RCV000031536 SCV000300854 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Sharing Clinical Reports Project (SCRP) RCV000031536 SCV000054141 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2008-03-24 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031536 SCV000146584 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2001-10-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496495 SCV000587756 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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