Variants with conflicting interpretations "pathogenic" from GeneDx and "likely pathogenic" from Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute

Minimum review status of the submission from GeneDx:		Collection method of the submission from GeneDx:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	rs28897759	0.00001
NM_000051.4(ATM):c.331+5G>A	rs752135143
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)	rs80356993

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.