ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) (rs61735835)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514873 SCV000610137 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079900 SCV000111783 benign not specified 2012-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000079900 SCV000523019 benign not specified 2016-05-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000079900 SCV000150823 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000377472 SCV000436659 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290059 SCV000436660 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000530040 SCV000657226 benign Bethlem myopathy 1 2017-11-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079900 SCV000308320 likely benign not specified 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.