Variants from Aleixo Muise Laboratory, Hospital For Sick Children with conflicting interpretations

Minimum review status of the submission from Aleixo Muise Laboratory, Hospital For Sick Children:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Aleixo Muise Laboratory, Hospital For Sick Children:	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: 2025-03-05

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
63	15	0	9	0	0	2	9

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
Aleixo Muise Laboratory, Hospital For Sick Children		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	4	0
	likely pathogenic	5	0	2

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
OMIM	0	13	0	4	0	0	0	4
Illumina Laboratory Services, Illumina	0	0	0	3	0	0	1	4
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	0	2	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	4	0	1	0	0	0	1
Mendelics	0	0	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	0	0	0	0	1	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	2	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	1	0	0	0	1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_001041.4(SI):c.1730T>G (p.Val577Gly)	rs121912615	0.00131
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)	rs79717168	0.00108
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg)	rs753558336	0.00003
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys)	rs147914967	0.00003
NM_004174.4(SLC9A3):c.932+1G>A	rs144524702	0.00002
NM_001558.4(IL10RA):c.537G>A (p.Thr179=)	rs1419560997	0.00001
NM_001041.4(SI):c.834_837del (p.Gln278fs)
NM_001080467.3(MYO5B):c.947G>T (p.Gly316Val)	rs971419104