ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.538G>A (p.Val180Met)

dbSNP: rs1064797231
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488334 SCV000575139 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Mendelics RCV002248713 SCV002517451 likely pathogenic Torsion dystonia 4 2022-05-04 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.