ClinVar Miner

Submissions for variant NM_017777.3(MKS1):c.1388G>A (p.Arg463Gln) (rs201619500)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514906 SCV000610174 likely benign not provided 2017-03-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000335464 SCV000340469 likely benign not specified 2016-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000335464 SCV000565134 likely benign not specified 2017-06-21 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.
Genetic Services Laboratory, University of Chicago RCV000335464 SCV000595792 uncertain significance not specified 2016-11-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285730 SCV000404277 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400230 SCV000404279 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000636963 SCV000758411 benign Joubert syndrome; Meckel-Gruber syndrome 2017-11-03 criteria provided, single submitter 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.