ClinVar Miner

Variants studied for craniosynostosis syndrome, autosomal recessive

Included ClinVar conditions (16):
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
107 42 712 480 138 10 1391

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IFT122 36 13 246 233 42 5 530
WDR35 29 12 256 160 54 1 481
WDR19 7 10 130 42 23 2 203
FGFR2 12 3 28 16 1 0 59
IFT43 1 0 23 12 3 1 39
POR 12 3 10 2 7 0 32
IFT122, LOC126806810 0 0 6 8 2 0 13
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
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
LOC126860075, POR 1 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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 45 13 347 371 79 0 855
Illumina Laboratory Services, Illumina 0 0 252 48 63 0 362
Fulgent Genetics, Fulgent Genetics 13 15 188 82 7 0 305
OMIM 44 0 0 0 0 0 44
Genome-Nilou Lab 0 0 0 0 39 0 39
GeneReviews 0 0 0 0 0 10 10
Baylor Genetics 3 0 5 0 0 0 8
Revvity Omics, Revvity 1 0 5 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 4 0 0 0 6
Mendelics 0 2 0 0 3 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 2 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 2 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 0 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
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 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
Klinisk genetik och genomik Research, Gothenburg University 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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

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