ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu)

dbSNP: rs1571939827
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Taipei Veterans General Hospital, Neurological Institute RCV000853619 SCV000899232 pathogenic Spinocerebellar ataxia type 19/22 2019-04-20 criteria provided, single submitter clinical testing SCA19/22-associated mutation

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