ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.2693A>G (p.Lys898Arg)

gnomAD frequency: 0.00003  dbSNP: rs200714367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886663 SCV001030182 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001560246 SCV001782616 uncertain significance not provided 2024-02-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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