ClinVar Miner

Variants studied for Myopathy, proximal, and ophthalmoplegia

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
82 51 863 487 44 2 1479

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYH2, MYHAS 63 32 694 393 33 2 1176
LOC126862500, MYH2, MYHAS 12 11 113 59 6 0 195
LOC126862501, MYH2, MYHAS 5 6 41 35 5 0 89
MYH2 1 2 12 0 0 0 15
GAS7, GLP2R, MYH1, MYH13, MYH2, MYH4, MYH8, RCVRN 1 0 0 0 0 0 1
HORMAD2, MTMR3 0 0 1 0 0 0 1
LOC126862500, MYH1, MYH2, MYHAS 0 0 1 0 0 0 1
MYH2, MYH3, SCO1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 67 26 769 482 37 0 1381
Revvity Omics, Revvity 3 6 124 4 0 0 137
Illumina Laboratory Services, Illumina 1 0 46 1 21 0 69
Fulgent Genetics, Fulgent Genetics 0 0 6 5 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 6 0 0 0 9
OMIM 9 0 0 0 0 0 9
3billion 1 2 4 0 0 0 7
Baylor Genetics 0 2 5 0 0 0 7
Mendelics 2 0 3 0 2 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 5 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 3 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 5 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Pathophysiology and Transplantation, University of Milan 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 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

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