ClinVar Miner

Variants in gene combination MYH2, MYHAS

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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
23 24 336 116 43 1 507

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myopathy, proximal, and ophthalmoplegia 21 16 301 86 37 0 449
not provided 2 9 36 35 3 0 83
Inclusion Body Myopathy, Dominant 0 0 32 1 1 0 34
not specified 0 0 2 12 20 0 31
Myopathy 0 2 0 0 0 0 2
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
MYH2-related myopathy 0 0 0 0 0 1 1
Muscular dystrophy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 9 254 105 28 0 408
Illumina Clinical Services Laboratory,Illumina 0 0 65 2 21 0 88
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 15 3 13 0 31
PreventionGenetics, PreventionGenetics 0 0 0 10 10 0 20
GeneDx 2 5 11 1 0 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 9 2 0 0 13
OMIM 9 0 0 0 0 0 9
Athena Diagnostics Inc 0 1 2 1 1 0 5
Mendelics 0 0 3 0 2 0 5
Baylor Genetics 0 2 2 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Institute of Human Genetics,University of Wuerzburg 0 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Ambry Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
IRCCS Fondazione Stella Maris,University of Pisa 1 0 0 0 0 0 1

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