ClinVar Miner

Variants in gene LARGE1

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Gene type:
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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 total
27 4 222 142 81 430

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 15 1 171 65 36 273
not provided 3 2 52 54 46 151
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 5 1 73 9 21 109
not specified 0 0 10 54 21 64
See cases 3 0 6 3 0 12
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 0 3 0 0 3
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 0 0 3 0 0 3
Walker-Warburg congenital muscular dystrophy 0 0 3 0 0 3
Muscular dystrophy 0 0 2 0 0 2
LARGE-related disorders 0 0 1 0 0 1
Retinitis pigmentosa 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 1 110 79 22 222
Illumina Clinical Services Laboratory,Illumina 0 0 73 9 21 103
GeneDx 3 0 8 42 39 92
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 26 2 16 45
Genetic Services Laboratory, University of Chicago 0 0 11 17 2 30
PreventionGenetics, PreventionGenetics 0 0 0 13 10 23
Athena Diagnostics Inc 0 0 6 3 7 16
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 1 13 15
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 9 2 0 11
OMIM 8 0 0 0 0 8
Lineagen, Inc 2 0 5 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 1 0 6
Baylor Genetics 0 0 5 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 3 1 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
ISCA site 1 0 0 2 1 0 3
ISCA site 6 0 0 1 1 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 1
Leeds Institute of Medical Research,University of Leeds 1 0 0 0 0 1

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