ClinVar Miner

Variants studied for myopathy caused by variation in POMT1

Included ClinVar conditions (10):
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
136 113 447 470 64 1157

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 total
POMT1 129 103 345 459 61 1024
FKRP 4 5 48 6 2 65
FKTN 3 4 37 4 1 49
POMT2 0 0 12 1 0 13
LARGE1 0 0 3 0 0 3
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 1
B4GAT1 0 1 0 0 0 1
DAG1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 104 23 284 445 47 903
Fulgent Genetics, Fulgent Genetics 14 36 117 12 3 182
Baylor Genetics 27 61 7 1 0 96
Illumina Laboratory Services, Illumina 1 0 64 15 13 93
OMIM 16 0 0 0 0 16
Genome-Nilou Lab 0 0 0 0 14 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 3 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 4 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 1 4
MGZ Medical Genetics Center 1 1 1 0 0 3
Mendelics 1 1 0 0 1 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
New York Genome Center 1 1 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Institute of Cell Biology and Neurobiology, Charite - Universitaetsmedizin Berlin 1 0 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 1
DASA 1 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 0 1 0 0 1

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