ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1056C>G (p.Leu352=) (rs116691849)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229636 SCV000290480 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251886 SCV000313659 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000251886 SCV000522717 benign not specified 2016-01-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000716454 SCV000847295 benign Seizures 2016-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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