ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.454A>G (p.Met152Val)

gnomAD frequency: 0.00009  dbSNP: rs146186857
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
CMT Laboratory, Bogazici University RCV001353162 SCV001548323 uncertain significance Hereditary spastic paraplegia 7 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001353162 SCV002490908 likely benign Hereditary spastic paraplegia 7 2024-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002070220 SCV002498214 uncertain significance not provided 2022-03-01 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.