ClinVar Miner

Variants in gene AGRN

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
47 28 1146 1142 179 75 2429

Condition and significance breakdown #

Total conditions: 34
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital myasthenic syndrome 8 45 22 964 990 110 7 2102
Inborn genetic diseases 0 0 379 36 0 0 415
not provided 0 4 131 160 110 1 383
not specified 0 0 15 71 72 0 125
AGRN-related disorder 0 0 7 49 13 0 69
Ovarian serous cystadenocarcinoma 0 0 0 0 0 19 19
Uterine corpus endometrial carcinoma 0 0 0 0 0 11 11
Cervical cancer 0 0 0 0 0 10 10
Lung cancer 0 0 0 0 0 8 8
Congenital myasthenic syndrome 1 1 0 0 0 5 7
Malignant tumor of esophagus 0 0 0 0 0 7 7
Gastric cancer 0 0 0 0 0 6 6
Malignant tumor of urinary bladder 0 0 0 0 0 6 6
Sarcoma 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
Thymoma 0 0 0 0 0 5 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
See cases 0 0 3 1 0 0 4
Uterine carcinosarcoma 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Colorectal cancer 0 0 0 0 0 2 2
Neurodevelopmental disorder 1 1 0 0 0 0 2
Abnormality of the musculature 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Fetal akinesia deformation sequence 0 1 0 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Presynaptic congenital myasthenic syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 36 12 917 994 100 0 2059
Ambry Genetics 0 0 379 36 0 0 415
GeneDx 0 4 68 80 106 0 258
Breakthrough Genomics, Breakthrough Genomics 0 0 15 62 73 0 150
PreventionGenetics, part of Exact Sciences 0 0 7 70 64 0 141
Mayo Clinic Laboratories, Mayo Clinic 0 0 32 22 44 0 98
CeGaT Center for Human Genetics Tuebingen 0 0 18 63 5 0 86
Revvity Omics, Revvity 1 2 76 2 1 0 82
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 62 62
Genetic Services Laboratory, University of Chicago 0 0 10 28 12 0 50
Athena Diagnostics 0 0 4 3 25 0 32
Genome-Nilou Lab 0 0 0 1 19 0 20
Baylor Genetics 0 1 16 0 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 9 1 0 15
Fulgent Genetics, Fulgent Genetics 0 0 7 3 0 0 10
3billion 1 0 0 8 0 0 9
Eurofins Ntd Llc (ga) 0 0 6 3 0 0 9
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 1 3 0 0 7
Department of Neurology, Xiangya Hospital Central South University 6 0 0 0 0 0 6
GeneReviews 1 0 0 0 0 5 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 1 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 2 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 0 0 0 0 2
Mendelics 0 1 0 1 0 0 2
OMIM 2 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 0 1 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 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
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.