ClinVar Miner

Variants studied for Shwachman-Diamond syndrome

Included ClinVar conditions (7):
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
30 11 22 5 10 11 75

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SBDS 15 9 10 1 6 9 40
EFL1 10 1 9 1 4 2 23
DNAJC21 0 1 3 1 0 0 5
SRP54 3 0 0 2 0 0 5
SRP19 1 0 0 0 0 0 1
SRPRA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 14 0 0 0 0 0 14
GeneReviews 0 0 0 0 0 11 11
Fulgent Genetics, Fulgent Genetics 4 0 3 4 0 0 11
Baylor Genetics 3 0 5 0 0 0 8
SIB Swiss Institute of Bioinformatics 0 0 6 0 1 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 2 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 5 0 5
Revvity Omics, Revvity 2 2 0 0 0 0 4
Mendelics 1 3 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 1 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Illumina Laboratory Services, Illumina 2 1 0 0 0 0 3
Undiagnosed Diseases Network, NIH 0 1 2 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 1 0 0 0 3
Genomics Facility, Ludwig-Maximilians-Universität München 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 2 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Genetics Laboratory, Department of Biology, Semnan University 2 0 0 0 0 0 2
Clinical Genetics Branch, National Institutes of Health 2 0 0 0 0 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, 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
Genetics and Molecular Pathology, SA Pathology 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1

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