ClinVar Miner

Variants in gene AGRN

See also:
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
41 23 1076 1053 176 12 2231

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital myasthenic syndrome 8 38 19 939 910 109 6 1991
not provided 0 2 104 144 110 1 339
Inborn genetic diseases 0 0 271 24 0 0 295
not specified 0 0 12 65 59 0 110
AGRN-related disorder 0 0 7 49 13 0 69
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
Presynaptic congenital myasthenic syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 29 10 909 916 100 0 1964
Ambry Genetics 0 0 271 24 0 0 295
GeneDx 0 2 51 80 106 0 239
Breakthrough Genomics, Breakthrough Genomics 0 0 15 62 73 0 150
PreventionGenetics, part of Exact Sciences 0 0 7 70 64 0 141
CeGaT Center for Human Genetics Tuebingen 0 0 16 55 5 0 76
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 0 0 3 3 22 0 28
Mayo Clinic Laboratories, Mayo Clinic 0 0 20 0 0 0 20
Genome-Nilou Lab 0 0 0 1 19 0 20
Baylor Genetics 0 1 16 0 0 0 17
Fulgent Genetics, Fulgent Genetics 0 0 7 3 0 0 10
Eurofins Ntd Llc (ga) 0 0 6 3 0 0 9
3billion 0 0 0 8 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 5 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 3 1 0 6
GeneReviews 1 0 0 0 0 5 6
Department of Neurology, Xiangya Hospital Central South University 6 0 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 2 0 0 4
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
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
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
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Solve-RD Consortium 0 2 0 0 0 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 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
Undiagnosed Diseases Network, NIH 1 0 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 1

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