ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys) (rs144755294)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194893 SCV000248890 uncertain significance not specified 2014-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718480 SCV000849344 benign History of neurodevelopmental disorder 2018-09-29 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000863531 SCV001004213 likely benign not provided 2018-09-26 criteria provided, single submitter clinical testing

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