ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)

dbSNP: rs2152412388
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002273858 SCV002558736 likely pathogenic Hereditary spastic paraplegia 7 2022-08-04 criteria provided, single submitter clinical testing in trans with another pathogenic SPG7 variant
MGZ Medical Genetics Center RCV002273858 SCV002581288 uncertain significance Hereditary spastic paraplegia 7 2022-02-16 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.