ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.1516GAA[2] (p.Glu508del)

dbSNP: rs2131976871
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001559578 SCV001781835 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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