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 total
26 32 136 130 118 320

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Freeman-Sheldon syndrome 6 2 50 18 100 173
Distal arthrogryposis type 2B 0 0 91 36 32 159
not provided 2 9 16 58 42 123
not specified 0 0 8 41 36 72
Arthrogryposis, distal, type 2B3 6 3 8 0 0 15
MYH3-Related Disorders 0 9 3 0 0 12
Contractures, pterygia, and variable skeletal fusions syndrome 1A 8 2 3 0 0 10
Contractures, pterygia, and variable skeletal fusions syndrome 1A; Spondylocarpotarsal synostosis syndrome 6 0 1 0 0 7
Arthrogryposis multiplex congenita 0 0 3 3 0 5
CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B 4 0 0 0 0 4
Spondylocarpotarsal synostosis syndrome 0 4 0 0 0 4
Inborn genetic diseases 1 2 0 0 0 3
Distal arthrogryposis 0 2 0 0 0 2
Distal arthrogryposis type 1A 0 0 1 0 0 1
Freeman-Sheldon syndrome; Arthrogryposis, distal, type 2B3 0 0 1 0 0 1
Freeman-Sheldon syndrome; Distal arthrogryposis type 2B; Contractures, pterygia, and variable skeletal fusions syndrome 1A 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1
Rhabdomyolysis 0 1 0 0 0 1
Seizures 0 0 1 0 0 1
Seizures; Flexion contracture 0 0 1 0 0 1
Spondylocarpotarsal fusion syndrome 1A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 95 53 97 164
Invitae 1 0 6 55 41 103
PreventionGenetics, PreventionGenetics 0 0 0 26 35 61
Genetic Services Laboratory, University of Chicago 0 1 5 17 9 32
OMIM 20 0 0 0 0 20
GeneDx 0 7 6 2 1 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 5 3 0 9
SIB Swiss Institute of Bioinformatics 2 3 4 0 0 9
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 9 0 0 0 9
Clinical Genetics Group,University of Otago 6 0 1 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 3 3 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 4 0 0 5
Mendelics 0 0 0 1 3 4
Ambry Genetics 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 3 3
Baylor Genetics 1 0 1 0 0 2
New York Genome Center 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1
Department of Pediatrics,Inha University Hospital, Inha University College of Medicine 1 0 0 0 0 1

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