ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.510+6A>G

gnomAD frequency: 0.00133  dbSNP: rs371736796
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083888 SCV001122621 likely benign PHGDH deficiency 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000974763 SCV001144932 benign not provided 2018-11-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338887 SCV004049073 benign Neu-Laxova syndrome 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001083888 SCV004049074 benign PHGDH deficiency 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083888 SCV001463181 likely benign PHGDH deficiency 2020-06-05 no assertion criteria provided 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.