Variants with conflicting interpretations "pathogenic" from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego and "other" from any submitter

Minimum review status of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego:		Collection method of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego:
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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg)	rs137852322
NM_001072.4(UGT1A6):c.862-6799_862-6798insTA	rs1559406508
Single allele

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.