ClinVar Miner

Variants with conflicting interpretations "pathogenic" from ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen and "uncertain significance" from any submitter

Minimum review status of the submission from ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen: Collection method of the submission from ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959

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.