Variants with conflicting interpretations "likely benign" from Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine and "benign" from any submitter

Minimum review status of the submission from Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine:		Collection method of the submission from Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine:
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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000321.3(RB1):c.2212-16T>A	rs201258424	0.01386
NM_000321.3(RB1):c.380+12T>C	rs3092881	0.01087
NM_000321.3(RB1):c.2521-11G>A	rs4151624	0.00570
NM_000321.3(RB1):c.1961-12T>C	rs201697122	0.00104
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)	rs142509759	0.00059
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp)	rs187912365	0.00051
NM_000321.3(RB1):c.411A>T (p.Glu137Asp)	rs3092902	0.00040
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)	rs200844292	0.00029
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys)	rs4151534	0.00014
NM_000321.3(RB1):c.539C>T (p.Ser180Leu)	rs367654488	0.00001
NM_000321.3(RB1):c.940-21C>A	rs559042622

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.