ClinVar Miner

Submissions for variant NM_004663.5(RAB11A):c.335A>G (p.His112Arg)

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 Leipzig Medical Center RCV003128308 SCV003804734 likely pathogenic EEG abnormality; Coarse facial features; Delayed speech and language development; Intellectual disability, mild; Precocious puberty in females; Delayed fine motor development; Primary microcephaly 2023-01-27 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2, PM2_SUP, PP2, PP3

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.