ClinVar Miner

Variants in gene POMT1

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
58 32 282 138 86 512

Condition and significance breakdown #

Total conditions: 19
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 25 13 136 37 52 250
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 20 11 129 51 26 237
not specified 0 0 22 74 40 114
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 3 2 65 15 14 99
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 10 2 8 0 1 20
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 1 0 8 0 6 15
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 4 4 1 0 0 9
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 8 0 0 0 0 8
Limb-Girdle Muscular Dystrophy, Recessive 0 0 3 2 0 5
Congenital muscular dystrophy 0 0 1 0 1 2
Dysgenesis of the cerebellar vermis 2 0 0 0 0 2
POMT1-Related Disorders 1 0 1 0 0 2
Ventriculomegaly; Abnormality of brainstem morphology 2 0 0 0 0 2
Walker-Warburg congenital muscular dystrophy 1 1 0 0 0 2
Cerebellar ataxia; Hearing impairment; Gait disturbance; Sensory neuropathy; Poor speech 0 0 1 0 0 1
Intellectual disability 0 0 1 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 1
Pyridoxine-dependent epilepsy 0 0 1 0 0 1
Seizures; Severe global developmental delay 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 20 11 129 68 26 254
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 16 2 115 6 21 160
GeneDx 13 4 11 66 52 146
Illumina Clinical Services Laboratory,Illumina 1 0 68 17 13 99
Athena Diagnostics Inc 0 3 21 6 21 51
PreventionGenetics, PreventionGenetics 0 0 0 19 25 44
Genetic Services Laboratory, University of Chicago 0 0 15 10 9 34
OMIM 18 0 0 0 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 4 3 5 3 0 15
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 1 1 10 14
Baylor Genetics 1 1 7 0 0 9
Fulgent Genetics,Fulgent Genetics 1 0 8 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 3 0 1 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 1 2 0 5
Mendelics 0 1 0 0 1 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 2 0 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 2 0 0 0 0 2
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 1
Institute of Cell Biology and Neurobiology,Charite - Universitaetsmedizin Berlin 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.