ClinVar Miner

Submissions for variant NM_016219.4(MAN1B1):c.1433A>G (p.Lys478Arg) (rs138658585)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715463 SCV000846292 likely benign History of neurodevelopmental disorder 2018-02-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Insufficient or conflicting evidence,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000433845 SCV000511541 likely benign not provided 2016-12-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago RCV000194431 SCV000247888 likely benign not specified 2015-06-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264855 SCV000478855 uncertain significance Intellectual Disability, Recessive 2016-06-14 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.