Variants from Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital with conflicting interpretations

Minimum review status of the submission from Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital:	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: 2024-06-30

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
66	19	0	3	4	0	1	8

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
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital		pathogenic	likely pathogenic	likely benign
	pathogenic	0	1	0
	likely pathogenic	2	0	0
	uncertain significance	0	1	4

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
GeneDx	0	15	0	1	0	0	1	2
Invitae	0	6	0	1	1	0	0	2
Mendelics	0	1	0	0	2	0	0	2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	3	0	2	0	0	0	2
Genetic Services Laboratory, University of Chicago	0	2	0	0	0	0	1	1
PreventionGenetics, part of Exact Sciences	0	6	0	0	1	0	0	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	7	0	1	0	0	0	1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	2	0	1	0	0	0	1
CeGaT Center for Human Genetics Tuebingen	0	3	0	1	0	0	0	1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	2	0	1	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	2	0	1	0	0	0	1
CZECANCA consortium	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val)	rs35918369	0.00034
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	rs140342925	0.00009
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)	rs587780104	0.00004
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)	rs9809219	0.00001
NM_004304.5(ALK):c.1720G>A (p.Gly574Arg)	rs762358335	0.00001
NM_005228.5(EGFR):c.2224G>A (p.Val742Ile)	rs587778250	0.00001
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)	rs72541813
NM_001042492.3(NF1):c.1652TTC[1] (p.Leu552del)	rs2144003808