ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)

dbSNP: rs1555445740
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
Athena Diagnostics RCV000518735 SCV000614468 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763370 SCV000894066 likely pathogenic Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000518735 SCV001989065 uncertain significance not provided 2021-03-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30816285, 30333007, 27835667)

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.