ClinVar Miner

Submissions for variant NM_004766.3(COPB2):c.1237_1238del (p.Lys413fs)

dbSNP: rs2107801839
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001788996 SCV002030293 uncertain significance COPB2-related disorder 2021-11-30 criteria provided, single submitter clinical testing This individual has been published in PMID: 34450031.
OMIM RCV002246506 SCV002520540 pathogenic Osteoporosis, childhood- or juvenile-onset, with developmental delay 2022-05-24 no assertion criteria provided literature only

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.