ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) (rs374624466)

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
Invitae RCV001083697 SCV000644082 likely benign Charcot-Marie-Tooth disease, type 4A 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000540301 SCV001144048 likely benign not provided 2019-03-12 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173321 SCV001336409 likely benign Charcot-Marie-Tooth disease 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.