ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=)

gnomAD frequency: 0.00007  dbSNP: rs201721843
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513549 SCV000608554 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing KCNMA1: BP4, BP7
Invitae RCV000689740 SCV000817406 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-01-28 criteria provided, single submitter clinical testing

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