ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.942C>T (p.Thr314=) (rs144766991)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712130 SCV000842552 benign not provided 2018-05-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000712130 SCV000225401 uncertain significance not provided 2015-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000174153 SCV000525358 likely benign not specified 2018-02-05 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 RCV000461151 SCV000563661 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2018-01-03 criteria provided, single submitter clinical testing

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