ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2944-52CTCC[7]

dbSNP: rs55843930
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000337379 SCV000340455 benign not specified 2016-04-05 criteria provided, single submitter clinical testing
GeneDx RCV001618495 SCV001842876 benign not provided 2016-02-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270207 SCV002553587 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270208 SCV002553588 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920114 SCV004733149 likely benign KCNT1-related disorder 2021-05-05 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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