ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.854+10G>A

gnomAD frequency: 0.00087  dbSNP: rs146470183
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423884 SCV000524129 likely benign not specified 2017-11-16 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.
Eurofins Ntd Llc (ga) RCV000423884 SCV000855930 likely benign not specified 2017-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000863149 SCV001003754 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270278 SCV002555272 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270279 SCV002555273 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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