Variants with conflicting interpretations "likely pathogenic" from GeneKor MSA and "uncertain significance" from any submitter

Minimum review status of the submission from GeneKor MSA:		Collection method of the submission from GeneKor MSA:
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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00434
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)	rs80359082	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	rs63750217
NM_024675.4(PALB2):c.49-1G>A	rs1440838364

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.