ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "pathogenic" from Genome Diagnostics Laboratory, University Medical Center Utrecht

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_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243

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.