ClinVar Miner

Submissions for variant NM_001003722.2(GLE1):c.1731C>T (p.Tyr577=)

gnomAD frequency: 0.00019  dbSNP: rs199722904
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 RCV000876264 SCV001018818 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495321 SCV002797428 likely benign Lethal arthrogryposis-anterior horn cell disease syndrome; Lethal congenital contracture syndrome 1 2021-08-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273802 SCV001457302 uncertain significance Lethal arthrogryposis-anterior horn cell disease syndrome 2020-01-24 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.