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 not provided total
21 7 549 356 131 1 999

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myasthenic syndrome, congenital, 8 15 4 524 233 71 1 845
not provided 0 2 34 108 43 0 184
not specified 0 0 8 72 60 0 112
Congenital myasthenic syndrome 9 1 0 0 0 0 10

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 1 516 298 71 0 898
GeneDx 0 2 14 27 63 0 106
PreventionGenetics, PreventionGenetics 0 0 0 27 54 0 81
Genetic Services Laboratory, University of Chicago 0 0 8 27 11 0 46
Athena Diagnostics Inc 0 0 2 3 17 0 22
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 11 5 0 0 16
Baylor Genetics 0 0 14 0 0 0 14
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 6 3 0 0 9
GeneReviews 9 0 0 0 0 0 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 5 0 0 7
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 5 0 5
OMIM 3 0 0 0 0 0 3
Mendelics 0 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare 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
Mayo Clinic Laboratories, Mayo Clinic 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 0 1

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