ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.28C>T (p.Leu10=)

dbSNP: rs727503073
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150751 SCV000198203 likely benign not specified 2014-05-28 criteria provided, single submitter clinical testing Leu10Leu in exon 1 of GLA: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514898 SCV003241814 likely benign Fabry disease 2023-02-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486667 SCV004240698 likely benign Cardiomyopathy 2023-03-21 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.