ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro)

gnomAD frequency: 0.00075  dbSNP: rs77636085
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
Genesis Genome Database RCV000857139 SCV000999718 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000857140 SCV000999719 uncertain significance Charcot-Marie-Tooth disease, type I 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000857141 SCV000999720 uncertain significance Autosomal dominant intermediate 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.