ClinVar Miner

Variants in gene CUL7

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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 15 176 44 43 276

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 18 7 89 35 30 164
Three M syndrome 1 13 9 101 6 30 158
not specified 0 0 0 5 15 20
3-M syndrome 1 0 3 0 0 4
Inborn genetic diseases 2 1 0 0 0 3
Short stature; Growth delay 0 0 1 0 0 1
Yakut short stature syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 93 6 30 129
Invitae 6 0 33 34 30 103
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 10 1 62 4 9 86
PreventionGenetics, PreventionGenetics 0 0 0 3 6 9
Baylor Genetics 1 0 6 0 0 7
OMIM 6 0 0 0 0 6
GeneDx 3 3 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 3 6
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 1 5 0 0 0 6
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 4 0 0 0 4
Ambry Genetics 2 1 0 0 0 3
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 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

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