ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=)

gnomAD frequency: 0.00010  dbSNP: rs61736948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078873 SCV000638720 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-12-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733200 SCV000861235 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000733200 SCV004125805 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing KCNMA1: BP4, BP7

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