ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) (rs148000791)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000198715 SCV000255320 likely pathogenic Joubert syndrome 3 2012-11-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000132677 SCV000281530 benign not provided 2015-10-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000249126 SCV000312888 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304449 SCV000460476 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000132677 SCV000634568 benign not provided 2018-12-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000249126 SCV000702284 benign not specified 2016-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000249126 SCV000728493 likely benign not specified 2018-01-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132677 SCV000172629 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000198715 SCV000734478 likely benign Joubert syndrome 3 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.