ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2940C>T (p.Tyr980=)

dbSNP: rs1554779778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602205 SCV000727653 likely benign not specified 2018-02-22 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.
CeGaT Center for Human Genetics Tuebingen RCV003431150 SCV004158987 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing KCNT1: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003767713 SCV004591047 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2025-01-14 criteria provided, single submitter clinical testing

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