ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) (rs201051863)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000175931 SCV000151539 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175931 SCV000227505 benign not specified 2014-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000175931 SCV000523114 benign not specified 2016-02-11 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 RCV000464310 SCV000563639 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716172 SCV000847009 benign Seizures 2016-07-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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