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
24 20 127 130 118 297

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Freeman-Sheldon syndrome 5 2 48 18 100 170
Distal arthrogryposis type 2B 0 0 91 36 32 159
not provided 0 8 12 58 42 117
not specified 0 0 8 41 36 72
ARTHROGRYPOSIS, DISTAL, TYPE 2B3 6 2 3 0 0 9
Contractures, pterygia, and variable skeletal fusions syndrome 1A 8 2 2 0 0 9
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 1 1 0 0 3
MYH3-Related Disorders 0 0 2 0 0 2
Congenital strabismus; Progressive peripheral neuropathy 0 0 1 0 0 1
Distal arthrogryposis 0 1 0 0 0 1
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
Laryngomalacia; Pectus excavatum; Congenital cerebellar hypoplasia; Atrial septal defect; Lissencephaly; Oligohydramnios; Optic atrophy; Blue sclerae; Congenital strabismus; Generalized hypotonia; Bilateral talipes equinovarus; Arthrogryposis multiplex congenita; Multiple prenatal fractures; Dysplastic corpus callosum; Congenital sensorineural hearing impairment; Hypoplasia of the pons; Unilateral vocal cord paresis 0 0 1 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1
Pectus excavatum; Poor coordination; Slender build; Arachnodactyly; Arachnoid cyst; Intellectual disability, mild; Joint hypermobility; Sandal gap; Mild global developmental delay 0 0 1 0 0 1
Rare genetic syndrome 0 0 1 0 0 1
Rhabdomyolysis 0 1 0 0 0 1
Skeletal disorder 0 1 0 0 0 1
Tongue tie; Global developmental delay; Stereotypy; Delayed speech and language development; Microcephaly; Poor eye contact; Central hypotonia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 94 53 97 163
Invitae 0 0 3 55 41 99
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
SIB Swiss Institute of Bioinformatics 2 3 4 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 3 0 8
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 5 0 0 5
Mendelics 0 0 0 1 3 4
Ambry Genetics 1 1 1 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
Division of Genomic Diagnostics,The 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
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 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

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