ClinVar Miner

Variants in gene TRAPPC4

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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
3 4 36 4 25 68

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 0 3 2 25 31
not specified 0 0 27 0 0 27
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 3 4 6 0 0 10
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 1 0 0 0 0 1
TRAPPC4-related disorder 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 0 3 0 25 28
Ambry Genetics 0 0 27 0 0 27
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 19 19
OMIM 3 0 0 0 0 3
Revvity Omics, Revvity 0 1 2 0 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 0 2 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 1 0 1
Mendelics 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
DASA 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 1

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