ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5633_5665del (p.Asn1878_Lys1888del)

dbSNP: rs2137519358
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774876 SCV002004176 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing In-frame deletion of 11 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek 2016)

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