ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.462C>T (p.Ala154=)

gnomAD frequency: 0.00001  dbSNP: rs200015007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392918 SCV001594567 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-10-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002276243 SCV002563018 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing KCNMA1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004550104 SCV004712225 likely benign KCNMA1-related disorder 2022-08-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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