Variants with conflicting interpretations "pathogenic" from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen and "likely pathogenic" from NIHR Bioresource Rare Diseases, University of Cambridge

Minimum review status of the submission from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen:		Collection method of the submission from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen:
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_000212.3(ITGB3):c.565C>T (p.Pro189Ser)	rs958609406	0.00001
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn)	rs1214448436	0.00001
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala)	rs778608263	0.00001
NM_000212.3(ITGB3):c.55dup (p.Ala19fs)	rs1302506624
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)	rs1598377051
NM_000419.5(ITGA2B):c.998+1G>C	rs1598381778

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.