ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) (rs56212569)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153335 SCV000202815 benign not specified 2014-03-24 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000223964 SCV000281585 likely benign not provided 2015-08-26 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000336504 SCV000375412 likely benign I cell disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388722 SCV000375413 likely benign Mucolipidosis, Type III Alpha/Beta 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000223964 SCV001115086 benign not provided 2019-03-05 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.