ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9946G>T (p.Glu3316Ter) (rs758051959)

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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) RCV000241160 SCV000301422 uncertain significance Breast-ovarian cancer, familial 2 2019-06-05 reviewed by expert panel curation Premature stop codon is located between the recognised high-risk truncating variant c.9924C>G (p.Tyr3308Ter) and the known low-risk truncating variant c.9976A>T (p.Lys3326Ter).

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