ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1053C>T (p.Pro351=)

gnomAD frequency: 0.00009  dbSNP: rs762689331
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
Athena Diagnostics Inc RCV001644782 SCV000844091 likely benign not specified 2021-02-15 criteria provided, single submitter clinical testing
Invitae RCV001413865 SCV001615986 likely benign Hereditary spastic paraplegia 7 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000713478 SCV001787342 likely benign not provided 2021-05-04 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.