ClinVar Miner

Submissions for variant NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) (rs146263125)

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
Ambry Genetics RCV000715113 SCV000845939 benign History of neurodevelopmental disorder 2016-09-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000223989 SCV000609410 likely benign not provided 2017-10-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000223989 SCV000281154 likely benign not provided 2015-06-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174756 SCV000226121 benign not specified 2014-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000174756 SCV000171751 benign not specified 2016-06-22 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.
Genetic Services Laboratory, University of Chicago RCV000174756 SCV000248931 benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV000458974 SCV000560943 benign Christianson syndrome 2017-07-05 criteria provided, single submitter clinical testing

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.