Variants with conflicting interpretations "likely benign" from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute and "benign" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum review status of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute:		Collection method of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute:
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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)	rs17604693	0.02655
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)	rs3729823	0.00861
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)	rs72468681	0.00714
NM_000384.3(APOB):c.8353A>C (p.Asn2785His)	rs2163204	0.00306
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)	rs77758574	0.00270
NM_004415.4(DSP):c.1920C>T (p.Ile640=)	rs74806300	0.00156
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)	rs116888866	0.00026
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)	rs139438727
NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter)	rs140704891
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)	rs35574083

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.