ClinVar Miner

Submissions for variant NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del)

dbSNP: rs1064794956
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484346 SCV000570286 likely pathogenic not provided 2022-11-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genomic Medicine Lab, University of California San Francisco RCV001375990 SCV001572991 uncertain significance Acrofacial dysostosis Cincinnati type 2020-06-18 criteria provided, single submitter clinical testing
OMIM RCV001375990 SCV004228235 pathogenic Acrofacial dysostosis Cincinnati type 2024-01-05 no assertion criteria provided literature only

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.