ClinVar Miner

Variants in gene TFE3

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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
12 8 67 22 4 109

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 4 2 34 15 1 56
Inborn genetic diseases 1 0 17 7 1 26
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 10 5 6 0 0 20
TFE3-related disorder 0 0 6 0 1 7
not specified 0 0 2 0 1 3
Intellectual disability 0 1 0 0 0 1
Neurodevelopmental abnormality 0 1 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 1
Renal cell carcinoma 1 0 0 0 0 1
Renal cell carcinoma, Xp11-associated 0 0 1 0 0 1
Renal cell carcinoma, Xp11-associated; Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 0 0 1 0 0 1
See cases 0 0 1 0 0 1
TFE3-Associated Neurodevelopmental disorder 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 3 0 30 0 0 33
Ambry Genetics 1 0 17 7 1 26
CeGaT Center for Human Genetics Tuebingen 1 1 1 10 0 13
OMIM 7 0 0 0 0 7
PreventionGenetics, part of Exact Sciences 0 0 6 0 1 7
Labcorp Genetics (formerly Invitae), Labcorp 1 0 1 3 1 6
3billion 3 1 2 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 2 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 1 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
New York Genome Center 0 0 1 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
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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