ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.850-5C>T

gnomAD frequency: 0.00319  dbSNP: rs113976691
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001079117 SCV000288017 benign GM3 synthase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713530 SCV000844152 benign not provided 2017-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003919956 SCV004737263 benign ST3GAL5-related disorder 2019-08-12 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.