ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.3719C>A (p.Pro1240Gln) (rs142890313)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150349 SCV000704981 likely benign not specified 2017-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764645 SCV000895754 uncertain significance Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia; Stickler syndrome, type 3; Fibrochondrogenesis 2 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150349 SCV000197459 likely benign not specified 2018-10-31 criteria provided, single submitter clinical testing The p.Pro1347Gln variant in COL11A2 is classified as likely benign because it ha s been identified in 0.3% (74/22572) of African chromosomes including 2 homozygo tes by the Genome Aggregation Database (gnomAD, ). ACMG/AMP Criteria applied: BS1.

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.