ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=) (rs371913299)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828093 SCV000969772 likely benign not provided 2018-05-30 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 RCV001079047 SCV001010622 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2019-12-31 criteria provided, single submitter clinical testing

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