ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1037_1082+113del

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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 of Leipzig Medical Center RCV003224954 SCV003920993 likely pathogenic Episodic ataxia type 2 2023-03-10 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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