ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His)

gnomAD frequency: 0.00007  dbSNP: rs776538404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712482 SCV000618084 benign not provided 2020-01-31 criteria provided, single submitter clinical testing
Invitae RCV000699529 SCV000828244 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270621 SCV002553740 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270622 SCV002553741 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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