ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2594+7C>T

gnomAD frequency: 0.00004  dbSNP: rs545094921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085645 SCV000563635 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000487906 SCV000575604 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942580 SCV004776337 likely benign KCNT1-related disorder 2020-05-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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