ClinVar Miner

Variants in gene POMT2

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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
44 20 326 118 76 2 527

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 15 5 151 52 15 2 239
not provided 21 7 129 39 38 0 226
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2 5 92 8 19 0 126
not specified 0 0 12 46 28 0 71
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 11 2 4 0 0 0 17
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 7 1 2 0 0 0 9
Limb-Girdle Muscular Dystrophy, Recessive 0 0 6 0 0 0 6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 1 0 3 0 0 0 4
Muscular dystrophy 3 0 0 0 0 0 3
Intellectual disability 0 0 2 0 0 0 2
Abnormality of 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
Congenital muscular dystrophy 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 5 151 70 16 0 257
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 15 1 113 3 13 0 145
Illumina Clinical Services Laboratory,Illumina 0 0 97 8 19 0 124
GeneDx 7 4 14 40 41 0 106
Athena Diagnostics Inc 0 1 13 2 14 0 30
PreventionGenetics, PreventionGenetics 0 0 0 11 12 0 23
OMIM 17 0 0 0 0 0 17
Genetic Services Laboratory, University of Chicago 3 3 6 4 1 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 14 1 0 0 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 4 0 4
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
Center for Genetic Medicine Research,Children's National Medical Center 0 2 1 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 2 1 0 0 0 3
Baylor Genetics 0 1 1 0 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
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Developmental Genetics Unit,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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1

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