ClinVar Miner

Variants in gene THRB

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Gene type:
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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
55 29 150 27 80 321

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Thyroid hormone resistance, generalized, autosomal dominant 39 10 85 8 61 200
not provided 21 15 28 9 14 83
Thyroid hormone resistance syndrome 1 0 15 7 3 26
not specified 1 0 14 2 5 22
THRB-related condition 4 6 4 3 0 17
Inborn genetic diseases 0 2 7 0 0 9
Selective pituitary resistance to thyroid hormone 6 0 1 0 0 7
Generalized resistance to thyroid hormone 6 0 0 0 0 6
Thyroid hormone resistance, generalized, autosomal recessive 2 1 0 0 0 3
Selective pituitary resistance to thyroid hormone; Thyroid hormone resistance, generalized, autosomal dominant; Thyroid hormone resistance, generalized, autosomal recessive 1 0 0 1 0 2
Macular dystrophy 1 0 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 1
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta 1 0 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 94 15 64 173
Quest Diagnostics Nichols Institute San Juan Capistrano 17 10 23 0 2 52
OMIM 34 0 0 0 0 34
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 25 2 3 0 0 30
GeneDx 7 5 4 0 10 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 3 8 2 0 24
PreventionGenetics, part of Exact Sciences 4 6 4 3 2 19
Invitae 0 0 0 7 4 11
Ambry Genetics 0 2 7 0 0 9
Eurofins Ntd Llc (ga) 2 0 4 0 0 6
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 3
Clinical Genetics, Academic Medical Center 0 0 0 0 3 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 0 1 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 1 1 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 2
Revvity Omics, Revvity 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Mendelics 0 0 1 0 0 1
Bionano Laboratories 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Laboratório Bases Genéticas das Doenças Endocrinológicas, Faculdade de Medicina de Botucatu, Universidade Estadual Paulista 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Maternalfetal Medicine, Genetics and Reproduction, University Hospital Virgen del Rocio/CIBERER 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 1

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