ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=)

gnomAD frequency: 0.00001  dbSNP: rs751965012
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000703194 SCV001247131 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Invitae RCV001402844 SCV001604702 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2020-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270974 SCV002553605 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270975 SCV002553606 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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