ClinVar Miner

Variants in gene POMT1

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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
122 97 456 511 106 1 1135

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 91 23 275 419 47 0 855
not provided 32 22 201 69 68 1 365
not specified 0 0 30 67 42 0 117
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 33 55 10 1 15 0 112
Autosomal recessive limb-girdle muscular dystrophy type 2K 3 3 65 15 26 0 109
Inborn genetic diseases 3 1 29 3 0 0 36
POMT1-related condition 1 4 4 23 1 0 33
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 10 4 3 0 14 0 31
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 4 2 15 1 6 0 28
Autosomal recessive limb-girdle muscular dystrophy 3 6 0 0 0 0 9
Limb-Girdle Muscular Dystrophy, Recessive 0 0 3 2 0 0 5
Congenital muscular dystrophy 0 0 1 0 1 0 2
Dysgenesis of the cerebellar vermis 2 0 0 0 0 0 2
Myopathy caused by variation in POMT1 1 0 1 0 0 0 2
POMT1-Related Disorders 1 0 1 0 0 0 2
Ventriculomegaly; Abnormal brainstem morphology 2 0 0 0 0 0 2
Walker-Warburg congenital muscular dystrophy 1 1 0 0 0 0 2
Abnormality of the musculature 1 0 0 0 0 0 1
Abnormality of the nervous system 1 0 0 0 0 0 1
Cerebellar ataxia; Hearing impairment; Gait disturbance; Sensory neuropathy; Poor speech 0 0 1 0 0 0 1
FAM157B-related condition 0 0 0 1 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Limb-girdle muscular dystrophy due to POMK deficiency 1 0 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy, type C 1 0 0 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 0 1
Pyridoxine-dependent epilepsy 0 0 1 0 0 0 1
Seizure; Severe global developmental delay 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 91 23 275 420 47 0 856
GeneDx 15 8 42 95 68 0 228
Eurofins Ntd Llc (ga) 16 2 115 6 21 0 160
Illumina Laboratory Services, Illumina 2 0 68 17 13 0 100
Revvity Omics, Revvity 9 7 70 0 0 0 86
Baylor Genetics 23 51 7 1 0 0 82
PreventionGenetics, part of Exact Sciences 1 4 4 41 26 0 76
Athena Diagnostics Inc 1 3 26 7 21 0 58
Genetic Services Laboratory, University of Chicago 1 0 15 10 10 0 36
Ambry Genetics 3 1 29 3 0 0 36
CeGaT Center for Human Genetics Tuebingen 4 4 7 16 3 0 34
Fulgent Genetics, Fulgent Genetics 4 2 15 1 0 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 6 8 0 2 0 19
OMIM 16 0 0 0 0 0 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 1 1 10 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 9 0 14
Genome-Nilou Lab 0 0 0 0 14 0 14
Clinical Genetics, Academic Medical Center 0 0 0 1 10 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 0 10 0 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 5 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 3 0 1 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 5 1 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 1 2 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
MGZ Medical Genetics Center 2 1 1 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Mendelics 1 1 0 0 1 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 0 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 2 0 0 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 2 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Institute of Cell Biology and Neurobiology, Charite - Universitaetsmedizin Berlin 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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