Variants with conflicting interpretations "pathogenic" from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center and "likely pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum review status of the submission from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center:		Collection method of the submission from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center:
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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	rs104886033	0.00004
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)	rs753966933	0.00002
NM_000277.3(PAH):c.510-2A>G	rs1555204750
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser)	rs2092437527
NM_001127671.2(LIFR):c.254del (p.Asn85fs)	rs886041545
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
NM_017547.4(FOXRED1):c.733+1G>A

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.