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
10 3 163 133 93 350

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 4 1 136 66 60 266
not specified 0 0 9 72 58 111
not provided 0 2 26 6 11 44
Congenital myasthenic syndrome 9 0 0 0 0 9

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 133 66 60 260
PreventionGenetics 0 0 0 27 54 81
GeneDx 0 2 14 25 36 77
Genetic Services Laboratory, University of Chicago 0 0 8 27 11 46
Athena Diagnostics Inc 0 0 2 4 10 16
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 5 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
Fulgent Genetics 0 0 2 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 2
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
Foundation for Research in Genetics and Endocrinology,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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