ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.-10C>T (rs2071225)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514920 SCV000885524 benign not provided 2017-06-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514920 SCV000610320 benign not provided 2017-06-19 criteria provided, single submitter clinical testing
Color RCV000335296 SCV000902579 benign Fabry disease 2018-03-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035296 SCV000110097 benign not specified 2018-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299108 SCV000481406 benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335296 SCV000481407 benign Fabry disease 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029943 SCV000052598 benign Cardiomyopathy 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035296 SCV000058944 benign not specified 2013-01-12 criteria provided, single submitter clinical testing -10C>T in 5'UTR of GLA: This variant is not expected to have clinical significan ce because it has been identified in 6.7% (256/3835) of African American chromos omes from a broad population by the NHLBI Exome Sequencing Project (http://evs.g s.washington.edu/EVS/; dbSNP rs2071225). -10C>T in 5'UTR of GLA (rs2071225; all ele frequency = 6.7%, 256/3835) **
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000514920 SCV000800938 benign not provided 2015-12-15 no assertion criteria provided clinical testing
PreventionGenetics RCV000035296 SCV000302831 benign not specified 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.