ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.231C>T (p.Asp77=)

gnomAD frequency: 0.00004  dbSNP: rs370998066
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535516 SCV000652930 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-08-31 criteria provided, single submitter clinical testing
GeneDx RCV001549398 SCV001769540 likely benign not provided 2019-03-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270648 SCV002554871 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270649 SCV002554872 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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