ClinVar Miner

Variants in gene LARGE1

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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
51 11 363 532 103 1 994

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Muscular dystrophy-dystroglycanopathy type B6 40 7 286 450 37 0 798
not provided 3 3 113 74 74 0 256
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 5 1 69 9 19 0 103
not specified 0 0 13 47 21 0 62
LARGE1-related condition 0 0 0 25 2 0 27
Inborn genetic diseases 0 0 10 1 0 0 11
See cases 2 0 3 2 0 0 7
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 0 3 0 0 0 3
Muscular dystrophy-dystroglycanopathy type B6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 0 0 3 0 0 0 3
Walker-Warburg congenital muscular dystrophy 0 0 3 0 0 0 3
Muscular dystrophy 0 0 2 0 0 0 2
LARGE-related disorders 0 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy type B6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 0 0 0 0 0 1 1
Retinitis pigmentosa 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 6 233 446 26 0 748
GeneDx 2 0 25 71 69 0 167
Illumina Laboratory Services, Illumina 0 0 69 9 19 0 97
Revvity Omics, Revvity 0 0 48 2 0 0 50
PreventionGenetics, part of Exact Sciences 0 0 0 37 12 0 49
Eurofins Ntd Llc (ga) 1 0 26 2 16 0 45
Genetic Services Laboratory, University of Chicago 0 0 11 17 2 0 30
CeGaT Center for Human Genetics Tuebingen 0 2 9 17 0 0 28
Athena Diagnostics Inc 0 0 6 4 7 0 17
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 1 1 13 0 15
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 12 3 0 0 15
Ambry Genetics 0 0 10 1 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 2 5 0 9
OMIM 7 0 0 0 0 0 7
Bionano Laboratories 2 0 5 0 0 0 7
Baylor Genetics 0 0 5 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 4 0 4
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 3 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
ISCA site 1 0 0 2 1 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 1 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
ISCA Site 6 0 0 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Leeds Institute of Medical Research, University of Leeds 1 0 0 0 0 0 1

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