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 total
13 12 101 6 30 161

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CUL7 13 9 101 6 30 158
OBSL1 0 3 0 0 0 3

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 90 6 30 126
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 1 8 0 0 0 9
Baylor Genetics 1 0 6 0 0 7
OMIM 5 0 0 0 0 5
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 2
Mendelics 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 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

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