ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5133dup (p.Trp1712fs)

dbSNP: rs730880288
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Total submissions: 1
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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) RCV000240977 SCV000300207 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.

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