ClinVar Miner

Variants in gene UNC80

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Minimum submission review status: Collection method:
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Gene type:

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
91 70 1047 1228 95 18 2448

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 72 46 845 1198 90 0 2214
Inborn genetic diseases 0 0 320 18 0 0 338
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 35 22 89 17 16 6 169
UNC80-related disorder 1 2 9 45 20 2 79
not specified 0 0 16 16 2 0 34
Intellectual disability 1 1 3 0 0 0 4
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
See cases 1 0 2 0 0 0 3
Encephalopathy 0 2 0 0 0 0 2
Neurodevelopmental delay 0 2 0 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Global developmental delay 0 0 1 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 0 1 0 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 1 0 0 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
Moderate global developmental delay 0 1 0 0 0 0 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 66 32 803 1178 88 0 2167
Ambry Genetics 0 0 320 18 0 0 338
GeneDx 10 11 78 1 6 0 106
PreventionGenetics, part of Exact Sciences 1 2 9 45 20 0 77
Breakthrough Genomics, Breakthrough Genomics 0 0 9 14 39 0 62
CeGaT Center for Human Genetics Tuebingen 4 2 13 34 0 0 53
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 0 14 16 0 0 36
Baylor Genetics 2 0 31 0 0 0 33
Revvity Omics, Revvity 5 3 21 0 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 7 10 0 21
Fulgent Genetics, Fulgent Genetics 0 1 11 7 0 0 19
3billion 6 0 3 1 0 0 10
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 10 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 6 0 0 0 9
Eurofins Ntd Llc (ga) 0 1 6 0 1 0 8
Yale Center for Mendelian Genomics, Yale University 7 0 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Mendelics 2 0 3 0 1 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
OMIM 6 0 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 1 0 0 6
Breda Genetics srl, Breda Genetics srl 0 2 3 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 3 1 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 3 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Illumina Laboratory Services, Illumina 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 1 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 2 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1

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