ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1173+2T>G (rs142979576)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521109 SCV000617823 pathogenic not provided 2019-12-04 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 15286788, 25082825, 15286787, 31589614, 33144682)
OMIM RCV000002094 SCV000022252 pathogenic Neutral 1 amino acid transport defect 2004-09-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000521109 SCV001739736 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000521109 SCV001927737 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000521109 SCV001964201 pathogenic not provided no assertion criteria provided clinical testing
PerkinElmer Genomics RCV000521109 SCV002020721 pathogenic not provided 2019-06-21 no assertion criteria provided 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.