ClinVar Miner

Variants in gene TBX2

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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 86 30 19 132

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 68 0 1 69
not provided 0 0 7 19 15 38
TBX2-related disorder 1 1 2 15 8 27
Vertebral anomalies and variable endocrine and T-cell dysfunction 2 4 10 1 5 21
Inborn genetic diseases 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 67 0 0 67
PreventionGenetics, part of Exact Sciences 0 1 2 15 8 26
Labcorp Genetics (formerly Invitae), Labcorp 0 0 1 15 8 24
Breakthrough Genomics, Breakthrough Genomics 0 0 1 3 9 13
CeGaT Center for Human Genetics Tuebingen 0 0 2 5 1 8
Genome-Nilou Lab 0 0 0 0 5 5
Baylor Genetics 0 1 3 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 2
GeneDx 0 0 0 0 2 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 2
Mendelics 1 0 0 0 1 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 1

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