ClinVar Miner

Variants in gene TFAP2A

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Minimum submission review status: Collection method:
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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 19 84 65 29 197

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 4 3 53 56 28 141
Branchiooculofacial syndrome 8 14 17 10 1 49
Inborn genetic diseases 1 2 18 0 0 21
TFAP2A-related disorder 0 0 7 5 1 13
not specified 0 0 2 0 1 3
Epicanthus; Hypertelorism; Esotropia; High palate; Low-set ears; EEG abnormality; Iris coloboma; Nystagmus; Microphthalmia; Short neck; Amblyopia; Abnormality of visual evoked potentials; Lens subluxation 1 0 0 0 0 1
Melnick-Fraser syndrome 0 1 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 4 1 30 38 11 84
GeneDx 1 2 28 14 19 64
Fulgent Genetics, Fulgent Genetics 0 3 15 8 0 26
Ambry Genetics 1 2 18 0 0 21
PreventionGenetics, part of Exact Sciences 0 0 7 5 2 14
CeGaT Center for Human Genetics Tuebingen 0 0 2 5 1 8
Breakthrough Genomics, Breakthrough Genomics 0 0 0 8 0 8
OMIM 4 0 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 3 0 0 0 4
Baylor Genetics 0 2 0 0 0 2
Athena Diagnostics 0 0 0 0 2 2
Revvity Omics, Revvity 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 2 0 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Mendelics 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 0 0 0 1

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