ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1008-5T>G

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
Ambry Genetics RCV002428489 SCV002731794 uncertain significance Inborn genetic diseases 2022-02-28 criteria provided, single submitter clinical testing The c.1008-5T>G intronic variant results from a T to G substitution 5 nucleotides upstream from coding exon 6 in the SPG11 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003495304 SCV004326544 likely benign Hereditary spastic paraplegia 11 2023-06-30 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.