ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.866G>A (p.Arg289His)

dbSNP: rs372309945
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002287862 SCV002578135 uncertain significance Spinocerebellar ataxia type 42 2022-09-27 criteria provided, single submitter clinical testing

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