ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.2238A>G (p.Ile746Met) (rs200658159)

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
Invitae RCV001085135 SCV000771145 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712545 SCV000843060 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716150 SCV000846986 likely benign History of neurodevelopmental disorder 2018-07-27 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign) ;Other strong data

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.