ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1092C>T (p.Asp364=)

gnomAD frequency: 0.00001  dbSNP: rs776589077
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173399 SCV001336487 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183172 SCV001348829 likely benign Cardiomyopathy 2019-10-07 criteria provided, single submitter clinical testing
Invitae RCV002067846 SCV002433936 likely benign Charcot-Marie-Tooth disease type 2 2024-01-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000281 SCV004818344 likely benign Primary dilated cardiomyopathy 2024-01-11 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.