ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)

gnomAD frequency: 0.00003  dbSNP: rs141695705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731100 SCV000858876 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000782284 SCV000920771 uncertain significance Developmental and epileptic encephalopathy, 14 2019-05-29 criteria provided, single submitter clinical testing
Invitae RCV001089034 SCV001005714 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-09-09 criteria provided, single submitter clinical testing

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