ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1995C>T (p.Ile665=)

gnomAD frequency: 0.00010  dbSNP: rs757811625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000728662 SCV000536184 likely benign not provided 2019-06-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728662 SCV000856264 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
Invitae RCV001079946 SCV001002135 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000728662 SCV001247125 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing

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