ClinVar Miner

Submissions for variant NM_000451.3(SHOX):c.-512C>A (rs113313554)

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
Genetics Research Lab, Taif University RCV000190324 SCV000223719 pathogenic Short stature, idiopathic, X-linked no assertion criteria provided not provided Converted during submission to Pathogenic.
Reproductive Health Research and Development,BGI Genomics RCV000190324 SCV001142499 benign Short stature, idiopathic, X-linked 2020-01-06 no assertion criteria provided curation NM_000451.3:c.-512C>A in SHOX gene has an allele frequency of 0.042 in African subpopulation in the gnomAD database, including 15 homozygous occurrences. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2.

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.