ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) (rs143198263)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176684 SCV000228375 likely benign not specified 2015-05-21 criteria provided, single submitter clinical testing
Invitae RCV000230655 SCV000290489 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001701697 SCV000523703 benign not provided 2019-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717808 SCV000848668 likely benign Seizures 2016-04-15 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701697 SCV001929626 likely benign not provided no assertion criteria provided clinical testing

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