ClinVar Miner

Variants in gene RAD21

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
42 21 186 164 69 2 449

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cornelia de Lange syndrome 4 33 8 99 99 24 2 258
not provided 10 4 59 58 50 0 178
Inborn genetic diseases 1 2 35 32 3 0 73
RAD21-related disorder 0 3 8 8 1 0 20
not specified 0 0 7 3 6 0 16
Mungan syndrome; Cornelia de Lange syndrome 4 0 0 4 3 1 0 8
Mungan syndrome 1 0 0 0 3 0 4
See cases 0 1 2 0 0 0 3
Acute megakaryoblastic leukemia in down syndrome 0 1 0 0 0 0 1
Cornelia de Lange syndrome 1 1 0 0 0 0 0 1
De Lange syndrome 0 1 0 0 0 0 1
Hereditary cancer-predisposing syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 11 2 90 105 26 0 234
GeneDx 9 3 50 38 47 0 147
Ambry Genetics 1 2 35 32 3 0 73
Breakthrough Genomics, Breakthrough Genomics 0 0 0 8 15 0 23
PreventionGenetics, part of Exact Sciences 0 2 8 9 3 0 22
CeGaT Center for Human Genetics Tuebingen 0 1 5 12 0 0 18
Genetic Services Laboratory, University of Chicago 4 0 6 0 4 0 14
OMIM 12 0 0 0 0 0 12
Fulgent Genetics, Fulgent Genetics 0 0 2 3 1 0 6
Baylor Genetics 3 0 1 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 1 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Mendelics 1 0 0 1 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 1 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Bondeson Group, Uppsala University 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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