ClinVar Miner

Variants in gene TRAPPC9

Minimum submission review status: Collection method:
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Gene type:
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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
8 10 124 62 24 1 194

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 49 37 13 0 91
Intellectual Disability, Recessive 0 0 57 11 8 0 76
History of neurodevelopmental disorder 0 1 24 26 17 0 68
not provided 3 6 20 2 1 0 32
Mental retardation, autosomal recessive 13 7 1 12 0 0 1 20
See cases 0 0 2 0 0 0 2
Mental retardation, autosomal recessive 13; Autistic behavior 0 1 0 0 0 0 1
Schizophrenia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genetic Services Laboratory, University of Chicago 3 0 53 36 6 0 98
Illumina Clinical Services Laboratory,Illumina 0 0 59 11 8 0 78
Ambry Genetics 0 1 24 26 17 0 68
GeneDx 2 4 6 0 0 0 12
PreventionGenetics 0 0 0 1 7 0 8
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 3 1 1 0 6
OMIM 4 0 0 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 2 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 0 2 0 0 0 2
Lineagen Inc. 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Department of Psychiatry,Nagoya University 0 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Genetics Laboratory, Faculty of Medicine,Prince of Songkla University, Thailand 0 1 0 0 0 0 1

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