ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=)

gnomAD frequency: 0.00145  dbSNP: rs115772068
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194405 SCV000247660 likely benign not specified 2015-04-03 criteria provided, single submitter clinical testing
Invitae RCV000639895 SCV000761480 benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-01-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000194405 SCV000858869 likely benign not specified 2018-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001582687 SCV001820369 likely benign not provided 2021-10-05 criteria provided, single submitter clinical testing

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