ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=)

gnomAD frequency: 0.00004  dbSNP: rs139515379
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000919775 SCV001065129 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702572 SCV004033057 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing KCNMA1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702572 SCV001927146 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702572 SCV001963686 likely benign not provided no assertion criteria provided clinical testing

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