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
21 12 122 13 17 169

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 13 7 64 1 3 88
Three M syndrome 1 0 58 8 4 71
not specified 0 0 0 5 15 20
Three M syndrome 1 7 5 7 0 0 19
Inborn genetic diseases 1 1 0 0 0 2
Yakut short stature syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 10 1 62 4 9 86
Illumina Clinical Services Laboratory,Illumina 0 0 60 8 4 72
PreventionGenetics 0 0 0 3 6 9
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 0 5 0 0 0 5
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 4 0 0 0 4
Ambry Genetics 1 1 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 2
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
Medical Genetics,University of Parma 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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

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