ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3157-8C>T

gnomAD frequency: 0.00088  dbSNP: rs371874401
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193361 SCV000247676 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000193361 SCV000338529 likely benign not specified 2016-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001721254 SCV000525487 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Invitae RCV000463033 SCV000563653 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269969 SCV002553631 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269970 SCV002553632 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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