ClinVar Miner

Submissions for variant NM_001288705.3(CSF1R):c.69dup (p.Glu24fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003150922 SCV003804227 likely pathogenic Brain abnormalities, neurodegeneration, and dysosteosclerosis 2023-02-21 criteria provided, single submitter clinical testing This variant was identified in routine testing in heterozygous state as an incidental finding. Biallelic pathogenic variants in CSF1R cause BANDDOS (MIM 618476). The phenotype of this individual showed some overlap with BANDDOS, but most likely was not caused by this variant, especially since a second heterozygous variant was missing. ACMG criteria: PVS1, PM2

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.