ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.9601C>T (p.Pro3201Ser) (rs8178216)

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
GeneDx RCV001703568 SCV000517124 likely benign not provided 2018-09-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24476948)
Invitae RCV000548341 SCV000655404 benign Immunodeficiency 26 with or without neurologic abnormalities 2020-12-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000445133 SCV001931637 benign not specified 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.