ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn)

gnomAD frequency: 0.00029  dbSNP: rs145785230
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488099 SCV000575327 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing COL6A2: BP4
Eurofins Ntd Llc (ga) RCV000488099 SCV000702587 uncertain significance not provided 2016-10-12 criteria provided, single submitter clinical testing
Invitae RCV001452859 SCV001656536 likely benign Bethlem myopathy 1A 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000488099 SCV001764262 uncertain significance not provided 2021-02-10 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in the heterozygous state in a patient with suspected LGMD; however, no additional information was provided (Nallamilli et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30564623)
Revvity Omics, Revvity RCV000488099 SCV003832442 uncertain significance not provided 2023-01-04 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.