ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.187A>G (p.Arg63Gly)

gnomAD frequency: 0.00379  dbSNP: rs11570606
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 RCV000870868 SCV001012425 benign Infantile neuroaxonal dystrophy 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001672972 SCV001888902 benign not provided 2020-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21255775)
CeGaT Center for Human Genetics Tuebingen RCV001672972 SCV004147894 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing PLA2G6: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV001672972 SCV005278705 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.