Variants from Molecular Genetics and Enzymology, National Research Centre with conflicting interpretations

Minimum review status of the submission from Molecular Genetics and Enzymology, National Research Centre:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Molecular Genetics and Enzymology, National Research Centre:	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: 2024-11-03

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
4	0	0	0	3	0	1	4

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
Molecular Genetics and Enzymology, National Research Centre		uncertain significance	likely benign	benign
	likely pathogenic	1	0	1
	uncertain significance	0	1	3

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
Breakthrough Genomics, Breakthrough Genomics	0	0	0	0	3	0	1	4
GeneDx	0	0	0	0	2	0	1	3
PreventionGenetics, part of Exact Sciences	0	0	0	0	3	0	0	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	2	0	1	3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	0	0	0	2	0	1	3
Mendelics	0	0	0	0	2	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	0	1	0	1	2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	0	1	0	1	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	0	0	0	1	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	0	0	1	1
Ambry Genetics	0	0	0	0	0	0	1	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	0	0	1	1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001308093.3(GATA4):c.1000+56C>A	rs804280	0.61291
NM_181486.4(TBX5):c.663+36G>T	rs2236017	0.54802
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly)	rs3729856	0.09064
NM_001308093.3(GATA4):c.912+25G>A	rs147860174	0.00539