ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9466C>T (p.Gln3156Ter)

dbSNP: rs276174925
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Total submissions: 2
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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) RCV000114113 SCV000301395 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) RCV000114113 SCV000147644 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2011-03-02 no assertion criteria provided clinical testing

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