Variants with conflicting interpretations "pathogenic" from Genome-Nilou Lab and "likely pathogenic" from Natera, Inc.

Minimum review status of the submission from Genome-Nilou Lab:		Collection method of the submission from Genome-Nilou Lab:
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_000531.6(OTC):c.118C>T (p.Arg40Cys)	rs72554307	0.00005
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	rs386833807	0.00003
NM_000709.4(BCKDHA):c.854-2A>G	rs760494152	0.00001
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788

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.