ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2586_2592del (p.Asn863fs)

dbSNP: rs80359336
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Total submissions: 3
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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) RCV000113066 SCV000300534 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113066 SCV000146074 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496484 SCV000587636 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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