ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.38T>C (p.Val13Ala)

gnomAD frequency: 0.00009  dbSNP: rs140274454
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001246600 SCV001419965 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001246600 SCV001779392 uncertain significance not provided 2020-10-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID #970937; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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.