ClinVar Miner

Submissions for variant NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=)

gnomAD frequency: 0.28596  dbSNP: rs11650737
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
PreventionGenetics, part of Exact Sciences RCV000117915 SCV000306829 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787927 SCV002029915 benign Ataxia with oculomotor apraxia type 3 2021-09-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117915 SCV000152191 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.