ClinVar Miner

Submissions for variant NM_024989.4(PGAP1):c.534T>G (p.Leu178=)

gnomAD frequency: 0.02335  dbSNP: rs35444896
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000547510 SCV000655089 benign Intellectual disability, autosomal recessive 42 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001672861 SCV001889494 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848973 SCV002105463 benign Hereditary spastic paraplegia 2017-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672861 SCV005237934 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.