ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2187C>T (p.Ser729=)

gnomAD frequency: 0.00009  dbSNP: rs150222138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698123 SCV000526212 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Invitae RCV000865596 SCV001006588 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270324 SCV002555452 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270325 SCV002555454 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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