ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3812C>A (p.Ser1271Ter) (rs80358623)

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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) RCV000113222 SCV000300666 pathogenic Breast-ovarian cancer, familial 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) RCV000113222 SCV000146301 pathogenic Breast-ovarian cancer, familial 2 2002-06-20 no assertion criteria provided clinical testing

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