ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003224923 SCV003920945 likely pathogenic Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2022-09-12 criteria provided, single submitter clinical testing

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