ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.152C>T (p.Ser51Phe)

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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 RCV001253510 SCV001429249 uncertain significance Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 2019-11-26 criteria provided, single submitter clinical testing

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