Variants with conflicting interpretations "likely pathogenic" from Pathway Genomics and "pathogenic" from any submitter

Minimum review status of the submission from Pathway Genomics:		Collection method of the submission from Pathway Genomics:
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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00434
NM_000535.7(PMS2):c.1A>G (p.Met1Val)	rs587779333	0.00004
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)	rs587782885	0.00002
NM_000314.8(PTEN):c.968dup (p.Asn323fs)	rs121913291
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	rs587779335
NM_000546.6(TP53):c.267del (p.Ser90fs)	rs587783062
NM_007294.4(BRCA1):c.4096+3A>G	rs80358015
NM_007294.4(BRCA1):c.4987-1G>A	rs730881495

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.