ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.596T>G (p.Val199Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797373 SCV005416857 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong

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