ClinVar Miner

Variants in gene POMT1

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Minimum submission review status: Collection method:
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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
46 20 206 126 84 406

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 23 13 136 58 63 267
not specified 0 0 22 74 40 114
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 10 4 58 4 3 79
Limb-Girdle Muscular Dystrophy, Recessive 0 0 36 10 7 53
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 12 0 0 0 0 12
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 10 1 1 0 0 12
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 3 2 1 0 1 7
Congenital muscular dystrophy 0 0 1 0 1 2
POMT1-Related Disorders 1 0 1 0 0 2
Cerebellar ataxia; Hearing impairment; Gait disturbance; Sensory neuropathy; Poor speech 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
Walker-Warburg congenital muscular dystrophy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 16 2 115 6 21 160
Invitae 10 4 58 51 26 149
GeneDx 13 4 11 66 52 146
Illumina Clinical Services Laboratory,Illumina 1 0 37 10 7 55
Athena Diagnostics Inc 0 3 20 6 21 50
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 1 1 10 13
Fulgent Genetics,Fulgent Genetics 1 0 8 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 5 0 0 8
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 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
Baylor Genetics 0 0 1 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 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

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