ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys)

gnomAD frequency: 0.00042  dbSNP: rs143599540
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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) RCV000591083 SCV000704913 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085367 SCV000761479 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000591083 SCV001796077 likely benign not provided 2018-11-08 criteria provided, single submitter clinical testing

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