ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) (rs6647476)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081443 SCV000113374 benign not specified 2014-07-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081443 SCV000194934 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081443 SCV000311531 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000715360 SCV000846189 benign History of neurodevelopmental disorder 2015-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000829237 SCV000970953 benign not provided 2016-02-01 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 RCV001081875 SCV001000357 benign Spastic paraplegia 2019-12-31 criteria provided, single submitter clinical testing
GeneReviews RCV000020650 SCV000041180 benign Allan-Herndon-Dudley syndrome 2010-03-09 no assertion criteria provided curation Converted during submission to Benign.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.