Variants from Clinical Genetics, Erasmus University Medical Center with conflicting interpretations

Minimum review status of the submission from Clinical Genetics, Erasmus University Medical Center:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Clinical Genetics, Erasmus University Medical Center:	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
307	0	0	0	8	0	2	10

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
Clinical Genetics, Erasmus University Medical Center		uncertain significance	likely benign	benign
	pathogenic	1	0	0
	likely pathogenic	1	1	0
	uncertain significance	0	7	6

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
PreventionGenetics, part of Exact Sciences	0	0	0	0	6	0	0	6
GeneDx	0	1	0	0	4	0	1	5
CeGaT Center for Human Genetics Tuebingen	0	0	0	0	4	0	1	5
Genetic Services Laboratory, University of Chicago	0	0	0	0	2	0	1	3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	0	0	0	2	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	0	0	1	0	1	2
Eurofins Ntd Llc (ga)	0	0	0	0	2	0	0	2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	0	0	0	2	0	0	2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	2	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	0	1	0	0	1
Ambry Genetics	0	0	0	0	1	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	1	0	0	1
Clinical Genetics, Academic Medical Center	0	0	0	0	1	0	0	1
Invitae	0	0	0	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	0	1	0	0	1
Illumina Laboratory Services, Illumina	0	0	0	0	1	0	0	1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	0	0	0	1	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	0	0	0	1	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	0	1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	0	0	0	1	0	0	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	0	1	0	0	1
Gharavi Laboratory, Columbia University	0	0	0	0	0	0	1	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	0	0	1	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_014000.3(VCL):c.2388G>A (p.Pro796=)	rs767809	0.42862
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly)	rs148768851	0.00669
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)	rs10482721	0.00297
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)	rs35586704	0.00228
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)	rs140666848	0.00218
NM_003872.3(NRP2):c.1000C>T (p.Arg334Cys)	rs114144673	0.00186
NM_001377.3(DYNC2H1):c.12366+8A>G	rs200404815	0.00156
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)	rs121917716	0.00028
NM_002615.7(SERPINF1):c.643+8C>T	rs149399910
NM_020975.6(RET):c.1196C>T (p.Pro399Leu)	rs1554818362