ClinVar Miner

Variants studied for 3-M syndrome

Included ClinVar conditions (4):
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
44 45 276 34 83 1 471

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OBSL1 18 13 154 24 53 0 256
CUL7 23 22 113 6 27 1 187
CCDC8 3 10 6 1 0 0 19
CUL7, LOC129996487 0 0 3 2 3 0 8
LOC129935660, OBSL1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 235 27 76 0 338
Genome-Nilou Lab 0 0 0 0 23 0 23
Fulgent Genetics, Fulgent Genetics 1 0 10 7 2 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 12 0 0 0 0 17
Baylor Genetics 3 1 11 0 0 0 15
OMIM 14 0 0 0 0 0 14
Revvity Omics, Revvity 1 1 9 0 0 0 11
3billion 6 3 1 0 0 0 10
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 1 8 0 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 4 4 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 1 2 3 0 0 0 6
Mendelics 1 2 1 0 1 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 0 0 0 4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 1 0 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 2 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 3
Suma Genomics 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 2 0 0 0 2
Pediatric Endocrinology, Ankara Etlik City Hospital 2 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Medical Genetics, University of Parma 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Prenatal Diagnosis Center, Guizhou Provincial People's Hospital 0 1 0 0 0 0 1
Department of Molecular Biology and Genetics, Istanbul Technical University 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1

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