Variants from Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen with conflicting interpretations

Minimum review status of the submission from Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen:	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: 2024-12-01

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
285	13	0	5	1	1	10	14

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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	protective	other
	pathogenic	0	1	2	0	0	0	0
	likely pathogenic	4	0	6	0	0	0	0
	uncertain significance	1	2	0	1	1	1	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
Labcorp Genetics (formerly Invitae), Labcorp	0	4	0	1	0	0	5	6
Baylor Genetics	0	0	0	2	0	0	2	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	0	0	0	0	3	3
OMIM	0	3	0	1	0	0	1	2
Athena Diagnostics	0	0	0	0	0	0	1	1
GeneDx	0	0	0	0	1	0	1	1
Elsea Laboratory, Baylor College of Medicine	0	0	0	0	0	0	1	1
MGZ Medical Genetics Center	0	0	0	0	0	0	1	1
Counsyl	0	0	0	0	0	0	1	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	0	1	0	0	0	1
Eurofins Ntd Llc (ga)	0	0	0	0	1	1	1	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	0	0	0	0	1	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	0	0	0	0	0	1	1
Illumina Laboratory Services, Illumina	0	0	0	0	0	0	1	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
University of Washington Center for Mendelian Genomics, University of Washington	0	0	0	0	0	0	1	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	0	0	0	0	1	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	0	0	0	1	1
CeGaT Center for Human Genetics Tuebingen	0	0	0	0	1	0	0	1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico	0	0	0	0	0	0	1	1
Daryl Scott Lab, Baylor College of Medicine	0	0	0	0	0	0	1	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	0	0	0	0	0	1	1
NIHR Bioresource Rare Diseases, University of Cambridge	0	0	0	0	0	0	1	1
Undiagnosed Diseases Network, NIH	0	0	0	0	0	0	1	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	0	0	0	1	0	1	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	0	1	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	0	0	0	1	0	1	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	0	1	0	1	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	0	0	0	1	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	2	0	0	0	0	1	1
Flegel Lab, National Institutes of Health	0	0	0	0	0	0	1	1
Genetics Department, University Hospital of Toulouse	0	0	0	0	0	0	1	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	0	0	0	0	0	1	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	0	0	0	1	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	0	0	0	0	0	1	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	0	0	0	1	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	0	0	0	0	1	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	0	0	0	1	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	0	0	0	1	1
Rare Disease Group, University of Exeter	0	0	0	0	0	0	1	1
Central Laboratory, The First Hospital of Lanzhou University	0	0	0	0	0	0	1	1
New York Genome Center	0	0	0	0	0	0	1	1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	0	0	0	0	0	1	1
Genome-Nilou Lab	0	0	0	1	0	0	0	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	0	0	0	0	0	1	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	0	0	0	0	1	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	0	0	0	1	1
Cytogenetics, Genetics Associates, Inc.	0	0	0	0	0	0	1	1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital	0	0	0	0	0	0	1	1
Breakthrough Genomics, Breakthrough Genomics	0	0	0	0	1	0	0	1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)	rs367970695	0.00002
NM_000359.3(TGM1):c.1645+1G>T	rs774242987	0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg)	rs778635368	0.00001
NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala)	rs988021644	0.00001
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)	rs1169623576	0.00001
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val)	rs137854611
NM_000535.7(PMS2):c.163+5G>C
NM_001104631.2(PDE4D):c.665T>C (p.Ile222Thr)
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu)	rs267604688
NM_002181.4(IHH):c.787C>T (p.Gln263Ter)
NM_006158.5(NEFL):c.292A>G (p.Asn98Asp)
NM_015915.5(ATL1):c.740A>G (p.His247Arg)	rs2140226883
NM_206538.4(EMC10):c.287del (p.Gly96fs)	rs770255014
Single allele