ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.477C>G (p.Ser159=)

gnomAD frequency: 0.00012  dbSNP: rs200157100
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001091221 SCV000530341 likely benign not provided 2019-06-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091221 SCV001247121 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV001462065 SCV001665976 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270397 SCV002555230 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270398 SCV002555232 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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