ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1497C>T (p.His499=)

gnomAD frequency: 0.00004  dbSNP: rs754670800
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001392558 SCV001594202 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000865313 SCV001803639 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271088 SCV002555350 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271089 SCV002555351 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000865313 SCV004158976 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing KCNT1: BP4, BP7

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