ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg)

dbSNP: rs1575415900
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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 RCV000824896 SCV000965815 likely pathogenic Autosomal recessive spinocerebellar ataxia 10 2016-01-04 criteria provided, single submitter clinical testing

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