ClinVar Miner

Submissions for variant NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) (rs1563518388)

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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000736031 SCV000920876 likely pathogenic PMP2-related Charcot-Marie-Tooth disease type 1 2018-11-01 criteria provided, single submitter research We found a PMP2 variant c.155T > C, p.(Ile52Thr) that segregates with the disease in 4 affected individuals of a multi-generational family.
Ambry Genetics RCV001267025 SCV001445206 likely pathogenic Inborn genetic diseases 2018-07-10 criteria provided, single submitter clinical testing
OMIM RCV000736031 SCV000864250 pathogenic PMP2-related Charcot-Marie-Tooth disease type 1 2019-01-16 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. 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.