ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.379-51304del

dbSNP: rs2154521818
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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 RCV002266690 SCV002548760 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome 2021-08-06 criteria provided, single submitter clinical testing

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