ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1200+12T>G (rs58604946)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243890 SCV000313660 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000243890 SCV000513386 benign not specified 2015-12-30 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 RCV001514767 SCV001722687 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-12-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000243890 SCV001744060 benign not specified no assertion criteria provided clinical testing

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