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
23 14 90 58 38 188

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Freeman-Sheldon syndrome 4 1 72 35 0 111
Arthrogryposis multiplex congenita 0 0 72 35 0 106
not specified 0 0 8 41 36 72
not provided 0 8 5 0 3 16
Distal arthrogryposis type 8 7 1 1 0 0 9
Distal arthrogryposis type 8; Spondylocarpotarsal synostosis syndrome 6 0 1 0 0 7
ARTHROGRYPOSIS, DISTAL, TYPE 2B3 6 0 0 0 0 6
CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1B 4 0 0 0 0 4
Distal arthrogryposis type 2B 0 2 1 0 0 3
Inborn genetic diseases 1 1 1 0 0 3
Spondylocarpotarsal synostosis syndrome 0 3 0 0 0 3
Distal arthrogryposis 0 1 0 0 0 1
Distal arthrogryposis type 1A 0 0 1 0 0 1
Freeman-Sheldon syndrome; Distal arthrogryposis type 2B; Distal arthrogryposis type 8 0 1 0 0 0 1
MYH3-Related Disorders 0 0 1 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1
Rhabdomyolysis 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 73 35 0 107
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 1 1 15
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
Ambry Genetics 1 1 1 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 3 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
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 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 1

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