ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.333G>A (p.Ser111=) (rs56008253)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177322 SCV000229169 likely benign not specified 2015-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177322 SCV000247677 likely benign not specified 2015-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000177322 SCV000524198 benign not specified 2016-02-22 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 RCV000469009 SCV000563648 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717634 SCV000848488 likely benign Seizures 2016-10-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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