ClinVar Miner

Variants in gene combination POMGNT1, TSPAN1

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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
106 156 426 544 35 4 1111

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 77 43 268 509 12 0 909
not provided 22 16 129 30 22 1 203
Muscle eye brain disease 15 72 88 22 8 0 187
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 34 53 20 0 8 0 110
Autosomal recessive limb-girdle muscular dystrophy type 2O 5 5 41 3 3 0 55
not specified 0 0 14 30 14 0 53
Muscular dystrophy-dystroglycanopathy 6 23 20 0 0 0 49
Retinitis pigmentosa 76 9 4 14 1 8 0 36
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 0 22 4 1 0 27
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 4 6 13 1 3 0 26
Retinal dystrophy 1 1 17 5 1 0 25
Inborn genetic diseases 2 1 15 1 0 0 19
POMGNT1-related condition 3 2 0 13 1 0 19
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76 4 2 6 1 0 1 14
Autosomal recessive limb-girdle muscular dystrophy 5 2 0 0 0 0 7
POMGNT1-Related Disorders 2 1 3 0 0 1 7
Muscle eye brain disease; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Retinitis pigmentosa 76 1 0 2 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 1 0 0 0 1 2
Myopathy caused by variation in POMGNT1 2 0 0 0 0 0 2
Abnormality of the nervous system 0 1 0 0 0 0 1
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
Hypotonia 0 0 1 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Limb-Girdle Muscular Dystrophy, Recessive 0 0 1 0 0 0 1
Limb-girdle muscular dystrophy 0 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy type B6 0 0 1 0 0 0 1
Phenylketonuria 0 0 1 0 0 0 1
Retinitis pigmentosa 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 77 43 268 511 12 0 911
Natera, Inc. 11 2 71 19 8 0 111
GeneDx 13 4 21 34 22 0 94
Eurofins Ntd Llc (ga) 4 0 80 0 5 0 89
Baylor Genetics 26 40 6 1 0 0 73
Counsyl 5 45 17 2 0 0 69
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 23 23 0 0 0 52
Revvity Omics, Revvity 4 2 42 1 0 0 49
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 34 0 0 0 0 35
PreventionGenetics, part of Exact Sciences 3 2 0 20 8 0 33
Illumina Laboratory Services, Illumina 2 1 27 4 1 0 32
Dept Of Ophthalmology, Nagoya University 1 1 17 5 1 0 25
Athena Diagnostics Inc 1 1 7 8 5 0 22
CeGaT Center for Human Genetics Tuebingen 7 2 4 7 1 0 21
Genome-Nilou Lab 1 0 11 1 8 0 20
OMIM 19 0 0 0 0 0 19
Ambry Genetics 2 1 15 1 0 0 19
Genetic Services Laboratory, University of Chicago 2 1 8 4 1 0 16
Fulgent Genetics, Fulgent Genetics 5 2 8 1 0 0 16
Myriad Genetics, Inc. 3 12 1 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 2 4 1 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3 0 2 5 0 10
Mayo Clinic Laboratories, Mayo Clinic 1 0 7 0 0 0 8
Clinical Genetics, Academic Medical Center 0 0 0 1 5 0 6
Mendelics 0 2 0 1 1 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 2 0 3
3billion 0 2 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 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 Human Genetics, University of Wuerzburg 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Clinical Genetics and Genomics, 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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