ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.1326T>C (p.Pro442=)

gnomAD frequency: 0.00024  dbSNP: rs371970036
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581471 SCV001813125 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072301 SCV002422285 likely benign Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2023-12-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346627 SCV004050581 likely benign Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346628 SCV004050582 likely benign Pontocerebellar hypoplasia type 9 2023-04-11 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.