ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3618C>T (p.His1206=)

gnomAD frequency: 0.00001  dbSNP: rs577378740
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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 RCV000538741 SCV001371101 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing KCNT1: BP4, BP7
Invitae RCV001449157 SCV001652265 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270662 SCV002553727 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270663 SCV002553728 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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