ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3255C>T (p.Thr1085=)

gnomAD frequency: 0.00008  dbSNP: rs371632359
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001406408 SCV001608361 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001581121 SCV001818152 likely benign not provided 2019-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271236 SCV002553657 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271237 SCV002553659 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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