Variants with conflicting interpretations "likely pathogenic" from Genetic Services Laboratory, University of Chicago and "likely benign" from any submitter

Minimum review status of the submission from Genetic Services Laboratory, University of Chicago:		Collection method of the submission from Genetic Services Laboratory, University of Chicago:
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_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)	rs201857437	0.00038
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)	rs200069592	0.00011
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)	rs142833057	0.00002
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)	rs587784175	0.00001

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.