ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1854C>T (p.Ala618=)

gnomAD frequency: 0.00002  dbSNP: rs1208098376
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091223 SCV001247124 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV001419432 SCV001621689 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-07-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271182 SCV002555412 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271183 SCV002555413 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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