ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2683_2693del (p.Gln895fs) (rs886040061)

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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) RCV000256640 SCV000323500 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.

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