ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=)

gnomAD frequency: 0.00021  dbSNP: rs147378590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596921 SCV000702901 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
Invitae RCV001088769 SCV001085931 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952953 SCV004770420 likely benign KCNMA1-related condition 2019-07-10 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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