ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2236G>A (p.Val746Met) (rs559344618)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419398 SCV000527724 likely benign not specified 2017-08-03 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.
Invitae RCV000472325 SCV000553826 likely benign not provided 2019-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717841 SCV000848701 likely benign Seizures 2018-01-29 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance)

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