ClinVar Miner

Variants in gene RAB11B

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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
2 5 68 136 43 238

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 1 58 126 43 228
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 2 3 9 1 0 13
RAB11B-related disorder 0 0 1 9 3 13
Inborn genetic diseases 0 0 6 3 0 9
Neurodevelopmental abnormality 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 2 1 49 124 32 208
GeneDx 1 0 9 0 14 24
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 14 14
PreventionGenetics, part of Exact Sciences 0 0 1 9 3 13
Ambry Genetics 0 0 6 3 0 9
CeGaT Center for Human Genetics Tuebingen 0 0 2 3 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
OMIM 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 2
New York Genome Center 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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