ClinVar Miner

Variants with conflicting interpretations "likely pathogenic, low penetrance" and "likely pathogenic"

Submission 1 (likely pathogenic, low penetrance) minimum review status: Submission 1 (likely pathogenic, low penetrance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
ClinVar version:

Total variants with conflicting interpretations: 3

HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.4986+3G>C rs80358023

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.