ClinVar Miner

Variants in gene WDR35

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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
41 29 322 211 100 1 629

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 20 8 151 145 34 0 357
not provided 5 9 68 46 53 0 175
Cranioectodermal dysplasia 2 11 3 113 19 31 1 174
Short-rib thoracic dysplasia 7 with or without polydactyly 5 3 110 19 31 0 168
WDR35-related condition 0 2 1 34 4 0 41
Inborn genetic diseases 0 2 26 1 0 0 29
not specified 0 1 9 7 12 0 25
Connective tissue disorder 0 0 7 2 4 0 13
Short rib-polydactyly syndrome 0 4 5 1 0 0 10
Cranioectodermal dysplasia 0 1 5 1 0 0 7
WDR35-Related Disorders 0 2 3 0 0 0 5
Jeune thoracic dystrophy 4 4 0 0 0 0 4
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 2 0 0 0 0 0 2
Short-rib thoracic dysplasia 6 with or without polydactyly 0 2 2 0 0 0 2
Ellis-van Creveld syndrome 0 0 1 0 0 0 1
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 20 8 151 147 34 0 360
Illumina Laboratory Services, Illumina 0 1 114 20 30 0 165
GeneDx 0 4 36 41 54 0 135
PreventionGenetics, part of Exact Sciences 0 2 1 34 8 0 45
Eurofins Ntd Llc (ga) 2 1 22 3 6 0 34
Ambry Genetics 0 2 26 1 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 12 4 9 0 28
OMIM 15 0 0 0 0 0 15
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 7 2 4 0 13
Revvity Omics, Revvity 2 1 6 0 0 0 9
University of Washington Center for Mendelian Genomics, University of Washington 0 9 0 0 0 0 9
CeGaT Center for Human Genetics Tuebingen 2 1 5 1 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 1 0 6 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 6 0 9
Baylor Genetics 3 0 5 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 6 1 0 0 7
Dan Cohn Lab, University Of California Los Angeles 4 0 2 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 1 0 0 4
SIB Swiss Institute of Bioinformatics 1 2 0 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Mendelics 0 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 1 0 0 0 1
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 0 1 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1

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