ClinVar Miner

Submissions for variant NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly)

dbSNP: rs1135401770
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
GeneDx RCV001752558 SCV001997439 uncertain significance not provided 2020-02-10 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; Has not been previously published as pathogenic or benign to our knowledge
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV001849565 SCV002107174 likely pathogenic Intellectual disability, autosomal dominant 22 2022-03-09 criteria provided, single submitter clinical testing
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001849565 SCV004032502 uncertain significance Intellectual disability, autosomal dominant 22 2023-05-05 flagged submission 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.