ClinVar Miner

Variants in gene POMT2

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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 not provided total
84 69 493 504 91 4 1124

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 58 20 293 436 31 3 839
not provided 22 14 196 55 50 0 317
Autosomal recessive limb-girdle muscular dystrophy type 2N 2 8 89 7 20 0 124
not specified 0 0 26 44 28 0 85
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 18 36 6 0 4 0 59
Inborn genetic diseases 1 0 23 1 0 0 25
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2 1 12 1 0 0 16
POMT2-related condition 1 2 0 12 0 0 15
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 8 1 2 0 4 0 14
Autosomal recessive limb-girdle muscular dystrophy 1 4 0 0 0 0 5
Limb-Girdle Muscular Dystrophy, Recessive 0 0 4 0 0 0 4
Intellectual disability 0 0 2 0 0 0 2
Muscular dystrophy 2 0 0 0 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 1
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 0 1 0 0 0 0 1
Elevated circulating creatine kinase concentration 0 0 1 0 0 0 1
POMGNT1-Related Disorders 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 20 293 437 31 0 839
GeneDx 7 6 41 65 53 0 172
Eurofins Ntd Llc (ga) 14 1 107 3 13 0 138
Illumina Laboratory Services, Illumina 0 0 89 7 16 0 112
Revvity Omics, Revvity 4 3 90 0 0 0 97
Baylor Genetics 9 34 1 0 0 0 44
PreventionGenetics, part of Exact Sciences 1 2 0 23 12 0 38
Athena Diagnostics Inc 0 1 17 4 14 0 36
CeGaT Center for Human Genetics Tuebingen 1 1 16 11 1 0 30
Ambry Genetics 1 0 23 1 0 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 4 16 0 0 0 21
Genetic Services Laboratory, University of Chicago 2 3 7 5 2 0 19
OMIM 17 0 0 0 0 0 17
Fulgent Genetics, Fulgent Genetics 2 1 12 1 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 6 0 10
Clinical Genetics, Academic Medical Center 0 0 0 0 5 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 1 4 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 4 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 3 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 1 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Center for Genetic Medicine Research, Children's National Medical Center 0 2 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 2 0 3
Genomic Medicine Lab, University of California San Francisco 1 1 1 0 0 0 3
3billion 0 2 1 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Mendelics 0 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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