ClinVar Miner

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

dbSNP: rs2093884478
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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 Generalized epilepsy-paroxysmal dyskinesia syndrome 2019-11-26 criteria provided, single submitter clinical testing

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