Variants from Shaikh Laboratory, University of Colorado with conflicting interpretations

Minimum review status of the submission from Shaikh Laboratory, University of Colorado:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Shaikh Laboratory, University of Colorado:	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
17	0	0	5	0	0	0	5

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
Shaikh Laboratory, University of Colorado		pathogenic
	likely pathogenic	5

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
Invitae	0	0	0	4	0	0	0	4
Autoinflammatory diseases unit, CHU de Montpellier	0	0	0	4	0	0	0	4
Genetic Services Laboratory, University of Chicago	0	0	0	2	0	0	0	2
Baylor Genetics	0	0	0	1	0	0	0	1
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	2	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	0	1	0	0	0	1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	0	0	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	0	1	0	0	0	1
Bodamer Research Lab, Boston Children's Hospital	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)	rs398123724
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)	rs398123753
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs)	rs35584294
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter)	rs587783729
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter)	rs793888512