ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.101A>G (p.His34Arg)

gnomAD frequency: 0.00001  dbSNP: rs766291656
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769308 SCV002003468 uncertain significance not provided 2020-10-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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