ClinVar Miner

Variants in gene combination POMGNT1, TSPAN1

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 not provided total
49 89 223 131 23 1 443

Condition and significance breakdown #

Total conditions: 19
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 22 14 110 96 6 0 248
not provided 14 7 86 21 12 1 133
Muscle eye brain disease 9 72 42 12 7 0 130
not specified 0 0 9 29 12 0 45
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 4 4 29 2 1 0 39
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 1 22 4 1 0 28
Retinitis pigmentosa 76 8 4 2 0 0 0 14
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 10 0 0 0 0 0 10
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 5 4 2 0 0 0 10
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 1 0 6 0 0 0 7
Muscle eye brain disease; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Retinitis pigmentosa 76 2 0 4 0 0 0 6
POMGNT1-Related Disorders 2 1 3 0 0 0 6
Inborn genetic diseases 2 1 0 0 0 0 3
Limb-Girdle Muscular Dystrophy, Recessive 0 0 2 0 0 0 2
Limb-girdle muscular dystrophy, autosomal recessive 2 0 0 0 0 0 2
Autism spectrum disorder 0 0 1 0 0 0 1
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 1 0 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Muscular hypotonia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 22 14 110 106 6 0 258
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 80 0 5 0 89
Counsyl 6 45 18 2 0 0 71
GeneDx 8 1 5 21 12 0 47
Natera, Inc. 5 1 23 9 6 0 44
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 34 0 0 0 0 35
Illumina Clinical Services Laboratory,Illumina 2 2 28 4 1 0 32
Athena Diagnostics Inc 1 1 7 6 5 0 20
OMIM 19 0 0 0 0 0 19
PreventionGenetics, PreventionGenetics 0 0 0 7 7 0 14
Genetic Services Laboratory, University of Chicago 2 0 6 3 1 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 5 2 2 0 0 0 9
Baylor Genetics 1 0 6 1 0 0 8
Fulgent Genetics,Fulgent Genetics 2 0 4 0 0 0 6
Mendelics 0 2 0 1 1 0 4
Ambry Genetics 2 1 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 0 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 0 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
Medical Genetics Laboratory,Tarbiat Modares University 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 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.