ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4257A>G (p.Lys1419=)

gnomAD frequency: 0.00001  dbSNP: rs754723643
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 RCV000820554 SCV000961271 likely benign Ehlers-Danlos syndrome, type 4 2024-01-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000820554 SCV004828084 likely benign Ehlers-Danlos syndrome, type 4 2023-08-28 criteria provided, single submitter clinical testing
GeneDx RCV004588293 SCV005079113 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing

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.