ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.5035C>T (p.Arg1679Cys) (rs121908243)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UniProtKB/Swiss-Prot RCV000059304 SCV000090862 not provided Episodic ataxia type 2 no assertion provided not provided
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea RCV000059304 SCV000882750 pathogenic Episodic ataxia type 2 2019-02-11 no assertion criteria provided research

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