ClinVar Miner

Variants studied for cranioectodermal dysplasia

Included ClinVar conditions (7):
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
37 14 307 82 82 494

Gene and significance breakdown #

Total genes and gene combinations: 10
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WDR35 16 7 146 42 40 238
IFT122 10 5 90 25 27 143
WDR19 4 1 69 12 12 98
IFT52 6 0 0 0 0 6
IFT43 1 0 1 0 0 2
IFT43, TGFB3 0 0 0 2 0 2
LOC101928222, MATN3, WDR35 0 0 0 0 2 2
LOC112939934, WDR19 0 0 1 0 0 1
MATN3, WDR35 0 0 0 1 1 1
SPAG17 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 250 47 63 359
Invitae 8 4 59 42 38 151
OMIM 26 0 0 0 0 26
GeneReviews 10 0 0 0 0 10
Baylor Genetics 2 0 4 0 0 6
Human Genetics - Radboudumc,Radboudumc 1 1 1 0 0 3
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 2 0 0 3
Mendelics 0 0 0 0 2 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Laboratorio de Citogenómica y Microarreglos,Universidad Autonoma de Nuevo Leon 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.