ClinVar Miner

Variants in gene TRAPPC11

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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 total
15 17 193 89 28 322

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Limb-girdle muscular dystrophy, type 2S 12 7 174 66 19 274
not provided 4 8 21 27 7 66
not specified 0 0 6 7 13 26
Inborn genetic diseases 1 0 1 0 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 1 0 0 0 2
Limb-girdle muscular dystrophy 0 1 0 0 0 1
Short stature; Intellectual disability 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 3 169 80 19 277
Athena Diagnostics Inc 0 0 14 4 8 26
PreventionGenetics, PreventionGenetics 0 0 0 7 11 18
GeneDx 4 5 3 0 2 14
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 7 2 0 12
Baylor Genetics 5 0 2 0 0 7
OMIM 4 0 0 0 0 4
Ambry Genetics 1 0 1 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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