ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1134C>T (p.Val378=) (rs149960236)

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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 RCV000195201 SCV000247672 benign not specified 2016-11-15 criteria provided, single submitter clinical testing
GeneDx RCV001537823 SCV000526031 likely benign not provided 2020-06-29 criteria provided, single submitter clinical testing
Invitae RCV000469821 SCV000563654 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717521 SCV000848374 likely benign Seizures 2016-07-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001537823 SCV001928680 likely benign not provided no assertion criteria provided clinical testing

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