ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1441-11C>T

gnomAD frequency: 0.00028  dbSNP: rs79390996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001584667 SCV001812637 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070411 SCV002438555 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2025-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495934 SCV002798940 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome 2022-04-25 criteria provided, single submitter clinical testing

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