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
37 14 209 64 36 1 322

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 18 6 121 0 5 0 150
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 5 3 53 11 14 1 87
Limb-Girdle Muscular Dystrophy, Recessive 0 0 54 12 7 0 73
not specified 0 0 12 46 24 0 70
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 12 1 1 0 0 0 14
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 8 1 2 0 0 0 10
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 4 4 2 0 0 0 10
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
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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 15 1 113 3 13 0 145
Invitae 5 3 53 11 14 0 86
Illumina Clinical Services Laboratory,Illumina 0 0 55 12 7 0 74
GeneDx 7 3 14 34 10 0 68
PreventionGenetics 0 0 0 11 12 0 23
Athena Diagnostics Inc 0 1 11 2 7 0 21
OMIM 17 0 0 0 0 0 17
Genetic Services Laboratory, University of Chicago 3 3 6 4 1 0 17
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 4 0 4
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1

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