ClinVar Miner

Variants in gene DVL3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
10 10 186 158 46 6 390

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 2 1 129 149 46 0 324
Inborn genetic diseases 0 0 60 0 0 0 60
Autosomal dominant Robinow syndrome 3 8 6 12 2 0 0 27
DVL3-related disorder 0 0 6 15 4 0 25
Autosomal dominant Robinow syndrome 1 6 0 0 0 0 0 6
Autosomal dominant Robinow syndrome 2 0 1 0 0 0 6 6
not specified 0 0 1 1 1 0 3
See cases 0 1 1 0 0 0 2
Short stature; Dental crowding; Genu valgum; Anteverted nares; Clinodactyly of the 5th finger; Short toe; Lumbar hyperlordosis; Short finger; Tented upper lip vermilion; Midface retrusion; Neurodevelopmental delay 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 107 140 39 0 286
Ambry Genetics 0 0 60 0 0 0 60
GeneDx 2 0 18 6 9 0 35
PreventionGenetics, part of Exact Sciences 0 0 6 15 4 0 25
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 11 0 14
CeGaT Center for Human Genetics Tuebingen 0 0 6 7 0 0 13
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 2 0 0 0 0 8
GeneReviews 0 0 0 0 0 6 6
OMIM 5 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 1 0 2
3billion 0 1 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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