ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4034G>T (p.Arg1345Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002467181 SCV002762325 likely pathogenic not provided 2022-12-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); 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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