ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.640_641delinsTT (p.Ala214Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005235915 SCV005881725 uncertain significance not provided 2024-09-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter protein structure/function

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