ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.600+23C>T (rs72664290)

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
PXE International RCV000499047 SCV000589135 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research
Reproductive Health Research and Development,BGI Genomics RCV000499047 SCV001142460 likely benign Pseudoxanthoma elasticum 2020-01-06 no assertion criteria provided curation NG_007558.2(NM_001171.5):c.600+23C>T in the ABCC6 gene has an allele frequency of 0.035 in Ashkenazi Jewish subpopulation in the gnomAD database. It was identified in a pseudoxanthoma elasticum Family (PMID: 16086317). Benign computational verdict because benign prediction from DANN. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BP4, PP4.

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.