ClinVar Miner

Variants in gene TRAPPC6B

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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 total
6 5 24 19 9 61

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 4 1 11 14 9 39
Inborn genetic diseases 0 1 13 1 0 15
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 4 3 2 0 2 10
TRAPPC6B-related disorder 0 2 0 5 0 7
TRAPPC6B-related neurodevelopmental disorder 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 0 9 12 8 32
Ambry Genetics 0 1 13 1 0 15
PreventionGenetics, part of Exact Sciences 0 2 0 5 0 7
CeGaT Center for Human Genetics Tuebingen 1 0 1 2 1 5
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 3 3
OMIM 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
GeneDx 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 0 1 0 0 1

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