Variants with conflicting interpretations "likely pathogenic" from Intergen, Intergen Genetics and Rare Diseases Diagnosis Center and "pathogenic" from any submitter

Minimum review status of the submission from Intergen, Intergen Genetics and Rare Diseases Diagnosis Center:		Collection method of the submission from Intergen, Intergen Genetics and Rare Diseases Diagnosis Center:
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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000065.5(C6):c.2381+2T>C	rs76202909	0.00242
NM_006424.3(SLC34A2):c.316G>C (p.Gly106Arg)	rs137853142	0.00001
NM_000235.4(LIPA):c.694G>T (p.Glu232Ter)
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)	rs62508686
NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)	rs769258044
NM_007294.4(BRCA1):c.213-15A>G	rs886040903
NM_018245.3(OGDHL):c.895A>G (p.Arg299Gly)	rs924975413
NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln)	rs761343107

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.