ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser)

gnomAD frequency: 0.00001  dbSNP: rs1156662870
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999283 SCV001155844 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Invitae RCV001365039 SCV001561269 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271158 SCV002554783 uncertain significance Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271159 SCV002554784 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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