ClinVar Miner

Variants studied for 3M syndrome 1

Included ClinVar conditions (1):
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
21 22 113 8 30 1 190

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
CUL7 21 19 110 6 27 1 179
CUL7, LOC129996487 0 0 3 2 3 0 8
OBSL1 0 3 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 90 6 30 0 126
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 1 8 0 0 0 0 9
Baylor Genetics 1 0 6 0 0 0 7
Fulgent Genetics, Fulgent Genetics 1 0 3 2 0 0 6
OMIM 5 0 0 0 0 0 5
Revvity Omics, Revvity 0 0 5 0 0 0 5
3billion 2 2 1 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 2 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 1 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Mendelics 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Medical Genetics, University of Parma 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 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
Istanbul Faculty of Medicine, Istanbul University 1 0 0 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
Suma Genomics 1 0 0 0 0 0 1

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