ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu) (rs148162797)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546777 SCV000652928 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000616774 SCV000726596 likely benign not provided 2019-10-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31780880)
Ambry Genetics RCV000715522 SCV000846351 likely benign Seizures 2018-05-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000616774 SCV001931972 likely benign not provided no assertion criteria provided clinical testing

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