ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468816 SCV002764957 likely pathogenic Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2021-05-12 criteria provided, single submitter clinical testing

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