ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.495del (p.His166fs)

dbSNP: rs1135401890
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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) RCV000661761 SCV000784074 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.
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496542 SCV000587553 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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