ClinVar Miner

Variants in gene MYH3

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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
78 82 999 716 216 22 1905

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 52 39 802 660 183 0 1669
Inborn genetic diseases 2 2 204 3 0 0 211
Freeman-Sheldon syndrome 5 7 52 16 111 0 189
Distal arthrogryposis type 2B1 0 0 91 36 31 0 158
not specified 0 0 40 60 45 0 130
MYH3-related disorder 4 18 29 47 8 1 105
Arthrogryposis, distal, type 2B3 6 5 12 0 22 0 42
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 10 4 10 0 22 0 42
Contractures, pterygia, and variable skeletal fusions syndrome 1B 8 7 3 0 22 0 39
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B 2 0 9 2 1 0 14
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Spondylocarpotarsal synostosis syndrome 6 0 1 0 0 0 7
Meniere disease 0 0 7 0 0 0 7
Spondylocarpotarsal synostosis syndrome 0 5 0 0 0 0 5
Distal arthrogryposis 0 2 2 0 0 0 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 2 2
Freeman-Sheldon syndrome; Arthrogryposis, distal, type 2B3 0 0 2 0 0 0 2
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3 1 1 0 0 0 0 2
Gastric cancer 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Arthrogryposis multiplex congenita 0 0 1 0 0 0 1
Arthrogryposis syndrome 0 0 1 0 0 0 1
Arthrogryposis, distal, type 1A 0 0 1 0 0 0 1
Autosomal dominant MYH3-related disorders 0 1 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Cleft lip/palate 0 0 1 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Freeman-Sheldon syndrome; Distal arthrogryposis type 2B1; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 0 1 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Prostate cancer 0 0 1 0 0 0 1
Rhabdomyolysis 0 1 0 0 0 0 1
See cases 0 1 0 0 0 0 1
Spondylocarpotarsal fusion syndrome 1A 1 0 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Venular insufficiency, systemic 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 49 13 722 604 97 0 1485
GeneDx 6 17 90 34 118 0 265
Ambry Genetics 2 2 204 3 0 0 211
Illumina Laboratory Services, Illumina 0 1 93 50 96 0 160
PreventionGenetics, part of Exact Sciences 1 6 25 68 43 0 143
Breakthrough Genomics, Breakthrough Genomics 0 0 4 33 52 0 89
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 4 30 20 0 0 56
CeGaT Center for Human Genetics Tuebingen 0 4 19 22 2 0 47
Genetic Services Laboratory, University of Chicago 0 1 5 18 12 0 36
Clinical Genetics, Academic Medical Center 0 0 0 0 25 0 25
Genome-Nilou Lab 0 0 0 0 22 0 22
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 21 21
OMIM 20 0 0 0 0 0 20
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 16 0 18
Revvity Omics, Revvity 2 5 10 0 0 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 0 13 0 15
3billion 3 1 7 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 5 3 0 10
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 9 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 2 3 4 0 0 0 9
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 7 0 0 0 7
Clinical Genetics Group, University of Otago 6 0 1 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 1 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 1 2 2 1 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 0 0 6
Mendelics 0 0 2 1 3 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 3 3 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 3 0 4
Baylor Genetics 1 0 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 0 1 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 2 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 4 0 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 3 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 2 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 1 2 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 3 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Variantyx, Inc. 2 1 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 1 0 0 0 2
Dasa 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 1 0 2
New York Genome Center 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 1 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 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
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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