Variants from Bioinformatics Unit, Institut Pasteur de Montevideo with conflicting interpretations

Minimum review status of the submission from Bioinformatics Unit, Institut Pasteur de Montevideo:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Bioinformatics Unit, Institut Pasteur de Montevideo:	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
7	1	0	2	0	0	1	3

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
Bioinformatics Unit, Institut Pasteur de Montevideo		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	1	0
	likely pathogenic	1	0	1

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
Mendelics	0	0	0	2	0	0	0	2
OMIM	0	1	0	1	0	0	0	1
Baylor Genetics	0	0	0	1	0	0	0	1
Genetic Services Laboratory, University of Chicago	0	0	0	1	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	1	0	0	0	1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	0	0	1	0	0	0	1
Revvity Omics, Revvity	0	1	0	1	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	0	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	0	1	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	0	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	0	1	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	0	1	0	0	0	1
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	0	0	1	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	0	0	0	0	1	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	0	1	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	0	0	1	0	0	0	1
Genetics Laboratory, Department of Biology, Semnan University	0	0	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	0	0	0	1	0	0	0	1
New York Genome Center	0	0	0	1	0	0	0	1
Lifecell International Pvt. Ltd	0	0	0	1	0	0	0	1
Suma Genomics	0	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	rs120074160	0.00099
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)	rs146579299	0.00068