ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3853del (p.Ser1286fs) (rs397507222)

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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) RCV000241420 SCV000300029 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Sharing Clinical Reports Project (SCRP) RCV000241420 SCV000053732 pathogenic Breast-ovarian cancer, familial 1 2007-12-22 no assertion criteria provided clinical testing

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