ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1769+8C>T

gnomAD frequency: 0.00007  dbSNP: rs371287985
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089063 SCV000652914 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000840205 SCV000982126 likely benign not provided 2018-03-16 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.
CeGaT Center for Human Genetics Tuebingen RCV000840205 SCV001500587 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270644 SCV002555394 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270645 SCV002555395 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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