ClinVar Miner

Variants in gene AGRN

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 total
13 5 332 282 129 698

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Myasthenic syndrome, congenital, 8 7 2 302 130 70 509
not provided 0 2 33 104 44 181
not specified 0 0 9 72 58 111
Congenital myasthenic syndrome 9 1 0 0 0 10

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 0 299 224 71 598
GeneDx 0 2 14 27 63 106
PreventionGenetics,PreventionGenetics 0 0 0 27 54 81
Genetic Services Laboratory, University of Chicago 0 0 8 27 11 46
Athena Diagnostics Inc 0 0 3 3 15 21
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 10 1 0 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 6 3 0 9
GeneReviews 9 0 0 0 0 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 5 0 7
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 5 5
OMIM 3 0 0 0 0 3
Mendelics 0 1 0 1 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 1

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