ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.91C>T (p.Arg31Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital of Duesseldorf RCV003336697 SCV004046811 pathogenic Episodic ataxia type 2 criteria provided, single submitter not provided

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