ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5774_5777del (p.Gln1925fs) (rs397507804)

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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) RCV000661637 SCV000783936 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576915 SCV000678772 not provided Familial cancer of breast no assertion provided literature only

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