ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2076C>T (p.Gly692=)

gnomAD frequency: 0.00001  dbSNP: rs1267885761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000831422 SCV000973170 likely benign not provided 2018-06-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003768584 SCV004570274 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-08-24 criteria provided, single submitter clinical testing

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