ClinVar Miner

Variants in gene MYH3

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Minimum submission review status: Collection method:
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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
60 63 692 571 214 1 1419

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 36 30 555 516 181 0 1271
Freeman-Sheldon syndrome 5 4 52 18 111 0 185
Distal arthrogryposis type 2B1 0 0 91 36 31 0 158
not specified 0 0 13 39 45 0 82
MYH3-related condition 0 5 18 44 8 0 75
Inborn genetic diseases 2 2 55 0 0 0 59
Arthrogryposis, distal, type 2B3 6 3 8 0 22 0 37
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 10 2 6 0 22 0 37
Contractures, pterygia, and variable skeletal fusions syndrome 1B 7 2 2 0 22 0 32
MYH3-Related Disorders 1 14 5 0 0 1 21
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Spondylocarpotarsal synostosis syndrome 6 0 1 0 0 0 7
Arthrogryposis multiplex congenita 0 0 4 3 0 0 6
Distal arthrogryposis 0 2 2 0 0 0 4
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 0 1 2 1 0 4
Spondylocarpotarsal synostosis syndrome 0 4 0 0 0 0 4
Arthrogryposis, distal, type 1A 0 0 1 0 0 0 1
Freeman-Sheldon syndrome; Arthrogryposis, distal, type 2B3 0 0 1 0 0 0 1
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3 0 1 0 0 0 0 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 prostate 0 0 1 0 0 0 1
Rhabdomyolysis 0 1 0 0 0 0 1
See cases 0 1 0 0 0 0 1
Seizure 0 0 1 0 0 0 1
Seizure; Flexion contracture 0 0 1 0 0 0 1
Spondylocarpotarsal fusion syndrome 1A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 35 11 513 471 95 0 1125
GeneDx 4 13 43 34 118 0 212
Illumina Laboratory Services, Illumina 0 1 97 53 96 0 166
PreventionGenetics, part of Exact Sciences 0 5 18 65 43 0 131
Ambry Genetics 2 2 55 0 0 0 59
Genetic Services Laboratory, University of Chicago 0 1 5 18 12 0 36
CeGaT Center for Human Genetics Tuebingen 0 4 13 14 2 0 33
Clinical Genetics, Academic Medical Center 0 0 0 0 25 0 25
Genome-Nilou Lab 0 0 0 0 22 0 22
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 0 13 0 15
Revvity Omics, Revvity 2 3 8 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 5 3 2 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 5 3 0 10
SIB Swiss Institute of Bioinformatics 2 3 4 0 0 0 9
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 9 0 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 1 0 7
Clinical Genetics Group, University of Otago 6 0 1 0 0 0 7
Mendelics 0 0 2 1 3 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 0 0 6
Fulgent Genetics, Fulgent Genetics 0 1 1 2 1 0 5
University of Washington Center for Mendelian Genomics, University of Washington 3 3 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 3 0 3
AiLife Diagnostics, AiLife Diagnostics 0 1 2 0 0 0 3
3billion 0 0 3 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 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

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