ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.1672AAG[2] (p.Lys560del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005254384 SCV005906639 uncertain significance not provided 2024-10-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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