ClinVar Miner

Variants studied for 3-M syndrome

Included ClinVar conditions (5):
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 total
31 18 251 27 76 402

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 total
OBSL1 14 5 145 21 46 231
CUL7 15 9 104 6 30 163
CCDC8 2 4 2 0 0 8

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 235 27 76 338
Baylor Genetics 6 1 10 0 0 17
OMIM 14 0 0 0 0 14
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 1 8 0 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 0 0 4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 1 0 0 0 4
Mendelics 1 1 0 0 1 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Medical Genetics, University of Parma 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Breda Genetics srl 1 0 0 0 0 1
Prenatal Diagnosis Center,Guizhou Provincial People's Hospital 0 1 0 0 0 1
Department of Molecular Biology and Genetics,Istanbul Technical University 1 0 0 0 0 1

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