ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser)

gnomAD frequency: 0.00080  dbSNP: rs35887009
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000382527 SCV000341595 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081285 SCV001020899 likely benign Bethlem myopathy 1A 2025-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000382527 SCV001817196 uncertain significance not provided 2024-10-02 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30564623)
Ambry Genetics RCV002521980 SCV003579342 likely benign Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.