ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.447-4_447-3dup

dbSNP: rs11377100
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173536 SCV001336626 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001575850 SCV001802925 likely benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Invitae RCV002067854 SCV002337481 benign Charcot-Marie-Tooth disease type 4 2024-01-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001575850 SCV001807476 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700713 SCV001924731 benign not specified no assertion criteria provided 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.