ClinVar Miner

Variants in gene WDR19

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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
44 39 244 97 28 390

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 11 7 152 65 17 252
Asphyxiating thoracic dystrophy 5 4 1 63 10 11 89
Cranioectodermal dysplasia 4 3 0 62 12 12 89
not provided 5 10 24 13 2 52
not specified 0 0 2 10 11 23
none provided 0 1 8 6 5 20
Jeune thoracic dystrophy 10 9 9 0 0 19
Senior-Loken syndrome 8 8 3 3 0 0 13
Nephronophthisis 13 8 3 0 0 0 11
Cranioectodermal dysplasia 1 1 7 0 0 9
Retinal dystrophy 1 1 5 0 0 7
WDR19-Related Disorders 0 0 3 0 0 3
Bardet-Biedl syndrome 0 0 2 0 0 2
Inborn genetic diseases 0 2 0 0 0 2
Nephronophthisis 13; Senior-Loken syndrome 8 2 0 0 0 0 2
Saldino-Mainzer syndrome 2 0 0 0 0 2
Type IV short rib polydactyly syndrome 2 2 0 0 0 2
Craniosynostosis syndrome 0 0 1 0 0 1
Intellectual disability 0 0 1 0 0 1
Leber congenital amaurosis 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 7 152 74 17 261
Illumina Clinical Services Laboratory,Illumina 0 0 72 13 12 93
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 12 10 8 31
PreventionGenetics, PreventionGenetics 0 0 0 5 9 14
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 1 10 2 0 14
OMIM 13 0 0 0 0 13
GeneDx 2 5 2 1 1 11
University of Washington Center for Mendelian Genomics, University of Washington 0 11 0 0 0 11
Dan Cohn Lab,University Of California Los Angeles 11 0 0 0 0 11
Blueprint Genetics 2 2 5 0 0 9
Baylor Genetics 6 0 0 0 0 6
Rare Disease Group, Clinical Genetics,Karolinska Institutet 2 0 4 0 0 6
Gharavi Laboratory,Columbia University 1 1 4 0 0 6
Molecular Biology Laboratory, Fundació Puigvert 2 4 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 5
Mendelics 3 1 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 2 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 2
Ambry Genetics 0 2 0 0 0 2
GeneReviews 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 1 0 0 2
Fundación para la Investigación Sanitaria y Biomédica de la Comunidad Valenciana,FISABIO Oftalmología Médica 2 0 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 2 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 0 0 1 0 0 1
Institute of Vision Research, Yonsei University College of Medicine 0 1 0 0 0 1

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