ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.184_186del (p.Arg62del)

dbSNP: rs141498429
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000458824 SCV000375001 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000458824 SCV000557438 likely benign Charcot-Marie-Tooth disease type 4 2024-11-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV004760476 SCV000604294 likely benign Charcot-Marie-Tooth disease type 4B1 2024-08-02 criteria provided, single submitter clinical testing
GeneDx RCV001718624 SCV000714853 likely benign not provided 2021-04-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411198 SCV002717033 likely benign Inborn genetic diseases 2019-08-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004760476 SCV005373919 likely benign Charcot-Marie-Tooth disease type 4B1 2024-09-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957587 SCV004772932 benign MTMR2-related disorder 2024-09-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.