ClinVar Miner

Submissions for variant NM_004595.5(SMS):c.443A>G (p.Gln148Arg)

dbSNP: rs397515551
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000055905 SCV000086915 not provided Syndromic X-linked intellectual disability Snyder type no assertion provided literature only
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health RCV000055905 SCV000188644 pathogenic Syndromic X-linked intellectual disability Snyder type no assertion criteria provided not provided Converted during submission to Pathogenic.

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.