ClinVar Miner

Variants studied for cranioectodermal dysplasia

Included ClinVar conditions (11):
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 not provided total
83 41 680 462 130 10 1312

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IFT122 36 16 250 233 42 5 537
WDR35 29 12 258 160 54 1 483
WDR19 7 11 131 42 23 2 205
IFT43 1 0 23 12 3 1 39
IFT122, LOC126806810 0 1 6 8 2 0 14
IFT52 6 0 2 0 1 0 9
LOC129933186, WDR35 0 0 4 2 1 0 7
IFT122, LOC129937552 1 0 3 2 1 1 6
IFT140 2 0 0 0 0 0 2
IFT43, TGFB3 0 0 0 2 0 0 2
MATN3, WDR35, WDR35-DT 0 0 0 0 2 0 2
CILK1 1 0 0 0 0 0 1
IFT122, MBD4 0 0 1 0 0 0 1
IFT122, MBD4, RHO 0 0 1 0 0 0 1
LOC112939934, WDR19 0 0 1 0 0 0 1
MATN3, WDR35 0 0 0 1 1 0 1
SPAG17 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 45 14 347 371 79 0 856
Illumina Laboratory Services, Illumina 0 0 250 47 63 0 359
Fulgent Genetics, Fulgent Genetics 2 11 155 66 6 0 240
Genome-Nilou Lab 0 0 0 0 33 0 33
OMIM 31 0 0 0 0 0 31
GeneReviews 0 0 0 0 0 10 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 5 0 0 0 9
Baylor Genetics 3 0 5 0 0 0 8
Revvity Omics, Revvity 1 0 5 0 0 0 6
Mendelics 0 2 0 0 2 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 1 0 0 0 3
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 2 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 0 2 0 0 0 0 2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 2 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 0 1

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