ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2944-52CTCC[4]

dbSNP: rs55843930
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000260396 SCV000342603 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV001651322 SCV001868855 benign not provided 2016-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270211 SCV002553585 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270212 SCV002553586 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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