ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.254+20T>C

gnomAD frequency: 0.27844  dbSNP: rs2385007
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000325105 SCV000339447 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000325105 SCV000519456 benign not specified 2016-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001513764 SCV001721439 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730656 SCV001980920 benign Developmental and epileptic encephalopathy, 14 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730657 SCV001980921 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2021-08-19 criteria provided, single submitter clinical testing

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