ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.2319T>C (p.Ser773=)

gnomAD frequency: 0.00001  dbSNP: rs745397940
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
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173526 SCV001336615 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002445410 SCV002735415 likely benign Inborn genetic diseases 2020-03-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002559663 SCV003479890 likely benign Charcot-Marie-Tooth disease type 4 2022-08-21 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.