ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) (rs61744696)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233192 SCV000290481 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2017-08-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117362 SCV000313663 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117362 SCV000332488 benign not specified 2015-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000117362 SCV000522663 benign not specified 2016-01-07 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 RCV000715543 SCV000846372 benign Seizures 2016-02-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117362 SCV000151545 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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