Variants with conflicting interpretations "likely benign" from GeneDx and "uncertain significance" from Natera, Inc.

Minimum review status of the submission from GeneDx:		Collection method of the submission from GeneDx:
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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.393G>A (p.Gln131=)	rs145682249	0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)	rs111967655	0.00116
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)	rs117874766	0.00097
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile)	rs150095448	0.00024
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)	rs189143447	0.00010
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser)	rs1326680081	0.00001
NM_000352.6(ABCC8):c.3650+4C>G	rs374315114

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.