ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5433_5436del (p.Glu1811fs)

dbSNP: rs397507784
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Total submissions: 3
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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) RCV000661469 SCV000783750 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV001310122 SCV001499670 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2020-04-02 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577775 SCV000678766 not provided Familial cancer of breast no assertion provided literature only

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