ClinVar Miner

Variants in gene TBX22

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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
11 7 65 26 26 122

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 5 17 13 21 56
Cleft palate with or without ankyloglossia, X-linked 2 2 15 9 9 36
Inborn genetic diseases 0 0 22 1 0 23
TBX22-related disorder 0 0 4 6 5 15
Cleft palate with ankyloglossia 9 0 0 0 0 9
not specified 0 0 7 0 0 7
Abruzzo-Erickson syndrome; Cleft palate with or without ankyloglossia, X-linked 0 0 1 1 0 2
Abruzzo-Erickson syndrome 1 0 0 0 0 1
Mendelian syndromes with cleft lip/palate 0 0 1 0 0 1
Orofacial cleft; Cleft palate 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 14 9 7 30
GeneDx 0 4 10 0 14 28
Ambry Genetics 0 0 22 1 0 23
PreventionGenetics, part of Exact Sciences 0 0 4 6 5 15
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 6 6 12
OMIM 11 0 0 0 0 11
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 7 9
CeGaT Center for Human Genetics Tuebingen 0 0 1 5 0 6
Mendelics 0 0 3 0 2 5
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Faculty of Pharmacy, University of Ljubljana 0 0 1 0 0 1

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