Variants with conflicting interpretations "uncertain significance" from HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas and "benign" from Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

Minimum review status of the submission from HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas:		Collection method of the submission from HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas:
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_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)	rs767455	0.39963
NM_001065.4(TNFRSF1A):c.625+10A>G	rs1800693	0.38055
NM_001289125.3(IFNAR2):c.23T>C (p.Phe8Ser)	rs2229207	0.08893
NM_001289125.3(IFNAR2):c.541-50A>G

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.