ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.2937A>G (p.Pro979=)

gnomAD frequency: 0.00091  dbSNP: rs138823071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639897 SCV000761483 benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV001568849 SCV001792791 likely benign not provided 2021-02-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918029 SCV004743263 likely benign KCNMA1-related condition 2022-11-14 criteria provided, single submitter 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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