ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5826C>T (p.Tyr1942=)

gnomAD frequency: 0.00013  dbSNP: rs759326217
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000525407 SCV000629471 benign Spastic paraplegia 2024-12-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662538 SCV001880431 benign not specified 2020-11-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707313 SCV005230848 benign not provided criteria provided, single submitter not provided

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.