Variants with conflicting interpretations "pathogenic" from Department of Pathology and Laboratory Medicine, Sinai Health System and "other" from any submitter

Minimum review status of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:		Collection method of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:
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_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03880
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	rs17580	0.02950
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282

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.