Variants from Biochemistry Laboratory of CDMU, Chengde Medical University with conflicting interpretations

Minimum review status of the submission from Biochemistry Laboratory of CDMU, Chengde Medical University:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Biochemistry Laboratory of CDMU, Chengde Medical University:	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
18	6	0	6	0	1	8	11

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
Biochemistry Laboratory of CDMU, Chengde Medical University		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	protective	other
	pathogenic	0	5	2	1	1	1	1
	likely pathogenic	2	0	4	3	1	1	1
	uncertain significance	0	1	0	0	0	0	0

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
Invitae	0	6	0	1	0	0	2	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	0	2	0	0	0	2
Illumina Laboratory Services, Illumina	0	0	0	2	0	0	1	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	0	1	0	0	1	2
Baylor Genetics	0	4	0	1	0	0	0	1
Athena Diagnostics Inc	0	0	0	1	0	0	1	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	0	0	1	0	0	0	1
Genetic Services Laboratory, University of Chicago	0	1	0	1	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	0	0	0	1	1
GeneDx	0	0	0	1	0	0	1	1
PreventionGenetics, part of Exact Sciences	0	0	0	0	0	0	1	1
Elsea Laboratory, Baylor College of Medicine	0	0	0	1	0	0	0	1
Counsyl	0	2	0	1	0	0	0	1
Natera, Inc.	0	3	0	0	0	0	1	1
Eurofins Ntd Llc (ga)	0	0	0	1	0	1	1	1
Mayo Clinic Laboratories, Mayo Clinic	0	1	0	1	0	0	1	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	0	0	1	0	0	1	1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	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
RettBASE	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	1	0	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	0	1	0	0	1	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	1	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	0	0	0	0	1	1
CeGaT Center for Human Genetics Tuebingen	0	0	0	0	0	0	1	1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico	0	0	0	1	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	0	0	1	0	0	0	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	0	0	1	0	0	0	1
NIHR Bioresource Rare Diseases, University of Cambridge	0	0	0	1	0	0	0	1
Undiagnosed Diseases Network, NIH	0	0	0	1	0	0	1	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	0	0	1	0	0	1	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	0	0	1	0	0	1	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	0	0	0	0	1	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	0	0	0	1	1
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	0	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	0	0	1	0	0	1	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	0	0	1	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	1	0	0	0	1
Flegel Lab, National Institutes of Health	0	0	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	0	0	0	0	1	1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	0	0	1	0	0	0	1
ClinGen PAH Variant Curation Expert Panel	0	0	0	1	0	0	0	1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux	0	0	0	0	0	0	1	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	1	0	0	1	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	0	0	1	0	0	0	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	0	0	0	0	0	1	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	34	0	0	1	0	0	0	1
Section for Clinical Neurogenetics, University of Tübingen	0	0	0	1	0	0	0	1
Rare Disease Group, University of Exeter	0	0	0	1	0	0	0	1
Central Laboratory, The First Hospital of Lanzhou University	0	0	0	1	0	0	0	1
New York Genome Center	0	1	0	1	0	0	1	1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	1	0	1	0	0	0	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	0	0	1	0	0	0	1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	0	0	0	1	0	0	0	1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University	0	0	0	0	0	0	1	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	0	1	0	0	0	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	1	0	0	0	1
Cytogenetics, Genetics Associates, Inc.	0	0	0	1	0	0	0	1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	rs142808899	0.00014
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	rs80338853	0.00009
NM_001164508.2(NEB):c.11341C>T (p.Arg3781Trp)	rs533027587	0.00005
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.875C>T (p.Pro292Leu)	rs1200240274	0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln)	rs752742151	0.00001
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)	rs559130985
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys)	rs1569244190
NM_133443.4(GPT2):c.1172C>T (p.Pro391Leu)	rs140993544
Single allele