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 total
28 20 179 59 46 291

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cranioectodermal dysplasia 2 10 3 111 19 31 171
Short-rib thoracic dysplasia 7 with or without polydactyly 5 2 108 19 31 165
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 7 3 37 27 16 90
not provided 3 5 31 18 3 58
not specified 0 2 9 7 11 25
none provided 0 1 4 0 7 12
Short Rib Polydactyly Syndrome 0 4 5 1 0 10
Cranioectodermal dysplasia 0 1 5 1 0 7
Jeune thoracic dystrophy 4 4 0 0 0 4
WDR35-Related Disorders 0 1 3 0 0 4
Inborn genetic diseases 0 2 0 0 0 2
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 2 0 0 0 0 2
Short rib-polydactyly syndrome, Majewski type 0 2 2 0 0 2
Ellis-van Creveld syndrome 0 0 1 0 0 1
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 114 20 31 166
Invitae 7 3 37 40 18 105
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 1 22 3 7 35
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 4 7 3 9 23
OMIM 15 0 0 0 0 15
GeneDx 0 2 5 2 4 13
University of Washington Center for Mendelian Genomics, University of Washington 0 9 0 0 0 9
Genetic Services Laboratory, University of Chicago 0 0 6 1 0 7
Dan Cohn Lab,University Of California Los Angeles 4 0 2 0 0 6
Baylor Genetics 1 0 4 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 3 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 0 4 4
Human Genetics - Radboudumc,Radboudumc 1 1 1 0 0 3
SIB Swiss Institute of Bioinformatics 1 2 0 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Ambry Genetics 0 2 0 0 0 2
Mendelics 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 1
Laboratorio de Citogenómica y Microarreglos,Universidad Autonoma de Nuevo Leon 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1

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