ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) (rs369983077)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117361 SCV000151544 likely benign not specified 2013-08-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724453 SCV000226957 uncertain significance not provided 2014-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000724453 SCV000525951 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Invitae RCV001079891 SCV000553821 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720699 SCV000851579 likely benign Seizures 2017-03-16 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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