Variants from Clinical Genomics Labs, University Health Network with conflicting interpretations

Minimum review status of the submission from Clinical Genomics Labs, University Health Network:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Clinical Genomics Labs, University Health Network:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2024-06-30

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
23	19	0	7	3	3	5	15

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All submitters
Clinical Genomics Labs, University Health Network		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor
	pathogenic	0	1	1	0	0	2
	likely pathogenic	4	0	0	0	0	0
	uncertain significance	2	2	0	2	0	1
	likely benign	0	0	1	0	2	0

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	13	0	5	0	0	2	7
Illumina Laboratory Services, Illumina	0	1	0	3	2	0	1	6
OMIM	0	3	0	0	0	3	1	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	6	0	1	1	0	1	3
Genetic Services Laboratory, University of Chicago	0	0	0	0	0	0	2	2
Color Diagnostics, LLC DBA Color Health	0	0	0	2	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	0	0	1	1
CSER _CC_NCGL, University of Washington	0	0	0	0	1	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	2	0	0	0	0	1	1
Myriad Genetics, Inc.	0	1	0	0	0	0	1	1
Institute of Human Genetics, University Hospital Muenster	0	0	0	0	0	0	1	1
All of Us Research Program, National Institutes of Health	0	2	0	0	1	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	rs35460768	0.00261
NM_000551.4(VHL):c.150C>G (p.Ala50=)	rs61751580	0.00070
NM_000551.4(VHL):c.463+8C>T	rs5030834	0.00051
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	rs104893829	0.00039
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)	rs141601766	0.00012
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)	rs762890562	0.00007
NM_000551.4(VHL):c.631A>C (p.Met211Leu)	rs200019083	0.00004
NM_000551.4(VHL):c.232A>G (p.Asn78Asp)	rs869025621
NM_000551.4(VHL):c.239G>T (p.Ser80Ile)	rs5030805
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)	rs730882034
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)	rs864321643
NM_000551.4(VHL):c.311G>T (p.Gly104Val)	rs869025630
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	rs869025667
NM_016222.4(DDX41):c.1574G>A (p.Arg525His)	rs869312828
NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg)	rs2081548277