ClinVar Miner

Submissions for variant NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=)

gnomAD frequency: 0.00001  dbSNP: rs587783623
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145964 SCV000193108 uncertain significance Roberts-SC phocomelia syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857507 SCV002246762 likely benign not provided 2024-02-02 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.