Variants with conflicting interpretations "likely pathogenic" from PreventionGenetics, part of Exact Sciences and "drug response" from any submitter

Minimum review status of the submission from PreventionGenetics, part of Exact Sciences:		Collection method of the submission from PreventionGenetics, part of Exact Sciences:
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_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	rs193922748
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys)	rs193922832

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.