ClinVar Miner

Variants studied for childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
62 31 700 385 44 1180

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYH2, MYHAS 43 17 562 313 33 934
LOC126862500, MYH2, MYHAS 12 9 89 49 6 160
LOC126862501, MYH2, MYHAS 5 4 35 23 5 69
MYH2 1 1 12 0 0 14
GAS7, GLP2R, MYH1, MYH13, MYH2, MYH4, MYH8, RCVRN 1 0 0 0 0 1
LOC126862500, MYH1, MYH2, MYHAS 0 0 1 0 0 1
MYH2, MYH3, SCO1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 48 20 615 381 37 1101
Revvity Omics, Revvity 2 3 106 2 0 113
Illumina Laboratory Services, Illumina 1 1 46 1 21 70
OMIM 9 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 3 5 0 8
Baylor Genetics 0 2 5 0 0 7
Mendelics 2 0 3 0 2 7
Genome-Nilou Lab 0 0 0 0 6 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 3 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Department of Pathophysiology and Transplantation, University of Milan 1 0 0 0 0 1
3billion 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
DASA 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 1

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