ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department of Medical Genetics, University Hospital of North Norway and "likely pathogenic" from any submitter

Minimum review status of the submission from Department of Medical Genetics, University Hospital of North Norway: Collection method of the submission from Department of Medical Genetics, University Hospital of North Norway:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu) rs770736746 0.00001
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala) rs397509222
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107

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.