ClinVar Miner

Variants in gene POMT1

See also:
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
39 15 193 92 48 324

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 21 8 128 6 11 170
not specified 0 0 23 74 40 115
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 6 4 46 18 20 94
Limb-Girdle Muscular Dystrophy, Recessive 0 0 36 10 7 53
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 13 3 1 0 0 17
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
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 4 0 0 0 0 4
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: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 16 2 115 6 21 160
GeneDx 11 3 11 58 15 98
Invitae 6 4 46 18 20 94
Illumina Clinical Services Laboratory,Illumina 1 0 37 10 7 55
PreventionGenetics 0 0 0 19 25 44
Athena Diagnostics Inc 0 2 14 4 17 37
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 1 0 8 0 0 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 1 2 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 1 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 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
Baylor Miraca Genetics Laboratories, 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
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

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.