ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1224-326G>C

dbSNP: rs2153793727
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266635 SCV002548671 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Liang-Wang syndrome 2021-07-09 criteria provided, single submitter clinical testing

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