ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.533C>T (p.Ala178Val)

gnomAD frequency: 0.00006  dbSNP: rs141961737
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419340 SCV000531302 likely benign not specified 2017-05-18 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 RCV000865839 SCV001006863 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270412 SCV002555235 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270413 SCV002555236 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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