ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1928+10C>T

gnomAD frequency: 0.00002  dbSNP: rs200921631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001407778 SCV001609760 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-05-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003490243 SCV004237848 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing

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