Variants from Medical Genetics Summaries with conflicting interpretations

Minimum review status of the submission from Medical Genetics Summaries:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Medical Genetics Summaries:	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: 2024-03-31

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
2	1	0	0	0	17	0	17

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
Medical Genetics Summaries		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	other
	drug response	4	1	3	11	9	2	10

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
GeneDx	0	0	0	0	0	14	0	14
Eurofins Ntd Llc (ga)	0	0	0	0	0	10	0	10
Invitae	0	0	0	0	0	8	0	8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	0	4	0	4
PreventionGenetics, part of Exact Sciences	0	0	0	0	0	4	0	4
Mayo Clinic Laboratories, Mayo Clinic	0	0	0	0	0	3	0	3
CeGaT Center for Human Genetics Tuebingen	0	0	0	0	0	3	0	3
OMIM	0	5	0	0	0	2	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	0	0	2	0	2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	0	0	0	0	2	0	2
Athena Diagnostics Inc	0	0	0	0	0	1	0	1
Genetic Services Laboratory, University of Chicago	0	0	0	0	0	1	0	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	0	0	0	0	1	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	0	0	1	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
CYP2D6*10	rs1065852	0.18675
CYP2D6*4	rs3892097	0.14340
CYP2C9*2	rs1799853	0.08975
CYP2D6*41	rs28371725	0.06736
CYP2C9*3	rs1057910	0.04900
UGT1A1*6	rs4148323	0.00891
CYP2D6*6	rs5030655	0.00883
CYP2C9*11	rs28371685	0.00738
CYP2C9*5	rs28371686	0.00342
CYP2C9*6	rs9332131
CYP2C9*8	rs7900194
CYP2D6*17
NC_012920.1:m.1494C>T	rs267606619
NC_012920.1:m.1555A>G	rs267606617
UGT1A1*28	rs3064744
UGT1A1*36	rs3064744
UGT1A1*37	rs3064744