ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2008+10G>C

gnomAD frequency: 0.00009  dbSNP: rs752453368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726138 SCV000342330 uncertain significance not provided 2016-06-17 criteria provided, single submitter clinical testing
Invitae RCV001081136 SCV000563659 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000726138 SCV000723996 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing

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