ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) (rs151080601)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717967 SCV000848828 likely benign Seizures 2016-07-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Subpopulation frequency in support of benign classification
Athena Diagnostics Inc RCV000193920 SCV000613887 benign not specified 2017-03-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000193920 SCV000332729 benign not specified 2015-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000193920 SCV000522718 benign not specified 2016-09-20 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.
Genetic Services Laboratory, University of Chicago RCV000193920 SCV000247674 likely benign not specified 2015-05-26 criteria provided, single submitter clinical testing
Invitae RCV000461300 SCV000563644 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2017-12-21 criteria provided, single submitter clinical testing

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