ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2931A>G (p.Thr977=)

gnomAD frequency: 0.00004  dbSNP: rs369519989
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592452 SCV001824093 likely benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072348 SCV002404568 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-10-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271275 SCV002553578 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271276 SCV002553582 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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