ClinVar Miner

Variants in gene AGRN

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Minimum submission review status: Collection method:
Minimum conflict level:
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
38 20 994 942 181 12 2061

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital myasthenic syndrome 8 35 16 920 814 109 6 1880
not provided 0 2 70 120 89 1 267
Inborn genetic diseases 0 0 126 12 0 0 138
not specified 0 0 12 62 59 0 108
AGRN-related condition 0 0 5 46 12 0 63
Congenital myasthenic syndrome 1 1 0 0 0 5 7
See cases 0 0 3 1 0 0 4
Neurodevelopmental disorder 1 1 0 0 0 0 2
Abnormality of the musculature 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 10 896 828 100 0 1860
GeneDx 0 2 39 80 106 0 227
Ambry Genetics 0 0 126 12 0 0 138
PreventionGenetics, part of Exact Sciences 0 0 5 67 63 0 135
CeGaT Center for Human Genetics Tuebingen 0 0 14 44 4 0 62
Genetic Services Laboratory, University of Chicago 0 0 10 28 12 0 50
Revvity Omics, Revvity 1 1 36 0 0 0 38
Athena Diagnostics Inc 0 0 3 3 21 0 27
Genome-Nilou Lab 0 0 0 1 19 0 20
Baylor Genetics 0 0 16 0 0 0 16
Eurofins Ntd Llc (ga) 0 0 6 3 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 5 3 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 5 0 0 7
GeneReviews 1 0 0 0 0 5 6
Department of Neurology, Xiangya Hospital Central South University 6 0 0 0 0 0 6
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 5 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 1 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
OMIM 2 0 0 0 0 0 2
Mendelics 0 1 0 1 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1

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