ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.42G>C (p.Pro14=)

dbSNP: rs767495472
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002103678 SCV002396476 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2022-06-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426321 SCV004145222 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing PIK3R2: BP4, BP7

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.