ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.67C>G (p.His23Asp)

dbSNP: rs1359437059
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
Medical Affairs, Dicerna Pharmaceuticals RCV001003305 SCV001161389 uncertain significance Farber lipogranulomatosis 2019-06-18 criteria provided, single submitter literature only Variant of uncertain significance is appropriate for variant, H23D (c.67C>G), because this variant was identified in homozygous formation from the fibroblasts isolated from a patient diagnosed with Farber disease. There is no further clinical description or functional characterization of this variant.

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.