ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "likely pathogenic" from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum review status of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034

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.