ClinVar Miner

Variants studied for cranioectodermal dysplasia 1

Included ClinVar conditions (3):
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
47 42 421 286 47 6 786

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IFT122 41 38 385 270 42 5 723
IFT122, LOC126806810 1 0 16 9 2 0 25
IFT122, LOC129937552 1 2 5 3 1 1 11
WDR19 1 1 7 0 0 0 9
WDR35 0 1 5 1 0 0 7
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 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 31 10 199 263 43 0 546
Fulgent Genetics, Fulgent Genetics 2 25 237 24 2 0 290
Illumina Laboratory Services, Illumina 0 0 82 16 19 0 117
OMIM 10 0 0 0 0 0 10
Revvity Omics, Revvity 1 0 5 0 0 0 6
GeneReviews 0 0 0 0 0 6 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 2 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Mendelics 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 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
Baylor Genetics 0 0 1 0 0 0 1
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 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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