ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2828G>A (p.Arg943His)

dbSNP: rs753862352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774631 SCV002002952 uncertain significance not provided 2020-02-10 criteria provided, single submitter clinical testing 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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