ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) (rs80338923)

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
Athena Diagnostics Inc RCV000002582 SCV000255842 pathogenic Charcot-Marie-Tooth disease, type 4C 2013-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998463 SCV001154552 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
OMIM RCV000002582 SCV000022740 pathogenic Charcot-Marie-Tooth disease, type 4C 2003-11-01 no assertion criteria provided literature only
GeneReviews RCV000002582 SCV000041481 pathologic Charcot-Marie-Tooth disease, type 4C 2008-03-31 no assertion criteria provided curation Converted during submission to Pathogenic.
Genesis Genome Database RCV000857152 SCV000999733 uncertain significance Charcot-Marie-Tooth disease type 4 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.