ClinVar Miner

Variants in gene UNC80

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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
82 62 965 1128 95 6 2249

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 62 38 825 1104 90 0 2086
Inborn genetic diseases 0 0 210 12 0 0 222
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 32 22 82 16 14 4 156
UNC80-related disorder 1 2 9 45 20 2 79
not specified 0 0 13 6 2 0 21
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
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
Intellectual disability 0 1 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Moderate global developmental delay 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 57 27 790 1084 88 0 2046
Ambry Genetics 0 0 210 12 0 0 222
GeneDx 8 8 58 1 6 0 81
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 32 1 0 52
Baylor Genetics 2 0 31 0 0 0 33
Revvity Omics, Revvity 5 3 20 0 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 11 6 0 0 20
Fulgent Genetics, Fulgent Genetics 0 1 11 7 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 5 8 0 15
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
3billion 5 0 1 1 0 0 7
OMIM 6 0 0 0 0 0 6
Mendelics 2 0 3 0 1 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 1 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 3 0 0 0 5
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
New York Genome Center 0 0 4 0 0 0 4
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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 2 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 1 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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
Laboratory of Medical Genetics, University of Torino 0 1 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 1 1

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