ClinVar Miner

Variants studied for Shwachman-Diamond syndrome 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
24 18 18 1 6 10 63

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SBDS 21 17 18 1 6 9 58
SRP54 3 0 0 0 0 0 3
DNAJC21 0 1 0 0 0 1 2

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 9 7 10 0 0 0 26
GeneReviews 0 0 0 0 0 9 9
SIB Swiss Institute of Bioinformatics 0 0 5 0 1 0 6
Baylor Genetics 3 0 2 0 0 0 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 5 0 5
Mendelics 2 3 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 3 0 0 0 0 5
Laboratory of Immunopathology and Genetics, Medical Laboratory of Pediatric Oncology and Hematology, Central Clinical Hospital of the Medical University of Lodz 4 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 0 4
OMIM 4 0 0 0 0 0 4
Revvity Omics, Revvity 2 2 0 0 0 0 4
3billion 2 0 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 1 0 3
Illumina Laboratory Services, Illumina 2 1 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 2 1 0 0 0 0 3
Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale 3 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Bioinformatics Unit, Institut Pasteur de Montevideo 1 1 0 0 0 0 2
Clinical Genetics Branch, National Institutes of Health 2 0 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genetics Laboratory, Department of Biology, Semnan University 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Next Generation Genetic Polyclinic 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 0 1

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