ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)

gnomAD frequency: 0.00001  dbSNP: rs2093873570
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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 RCV001733872 SCV001985039 likely pathogenic Spinocerebellar ataxia type 15/16 2021-10-28 criteria provided, single submitter clinical testing

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