ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) (rs754465226)

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 Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000498809 SCV000590850 uncertain significance not specified 2017-01-05 criteria provided, single submitter clinical testing
Institute of Human Genetics,Cologne University RCV000664228 SCV000787793 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2S 2018-04-25 no assertion criteria provided clinical testing
Genesis Genome Database RCV000856971 SCV000999537 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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.