ClinVar Miner

Variants in gene CDC42

See also:
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 19 34 56 13 123

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 11 6 30 55 13 114
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 8 6 2 2 0 15
Abnormal facial shape; Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Postnatal growth retardation; Neurodevelopmental abnormality 0 9 0 0 0 9
CDC42-related disorder 1 2 1 1 0 5
Inborn genetic diseases 3 0 1 0 0 4
not specified 0 0 2 1 0 3
CDC42-associated inflammatory disease 1 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 1
Noonan-like syndrome 1 0 0 0 0 1
See cases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 5 0 17 55 9 86
GeneDx 7 4 9 0 3 23
CeGaT Center for Human Genetics Tuebingen 3 2 1 1 3 10
University of Washington Center for Mendelian Genomics, University of Washington 0 9 0 0 0 9
OMIM 6 0 0 0 0 6
Ambry Genetics 3 0 1 0 0 4
PreventionGenetics, part of Exact Sciences 1 1 1 1 0 4
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 4 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 1 0 3
Bionano Laboratories 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 1 0 0 2 0 3
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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