ClinVar Miner

Variants in gene THRB

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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
56 13 134 19 70 283

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Thyroid hormone resistance, generalized, autosomal dominant 42 5 89 8 62 205
not provided 15 7 24 5 4 53
Thyroid hormone resistance syndrome 2 0 16 7 3 28
not specified 0 0 6 0 4 10
Thyroid hormone resistance, generalized 6 0 0 0 0 6
Thyroid hormone resistance, selective pituitary 6 0 0 0 0 6
Thyroid hormone resistance, generalized, autosomal recessive 2 1 0 0 0 3
Inborn genetic diseases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 97 15 65 177
Quest Diagnostics Nichols Institute San Juan Capistrano 13 6 24 0 2 45
OMIM 37 0 0 0 0 37
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 27 2 7 0 0 36
Invitae 0 0 0 5 4 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 4 0 1 7
GeneDx 2 0 1 0 1 4
PreventionGenetics, PreventionGenetics 0 0 0 0 3 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 2
Ambry Genetics 0 1 0 0 0 1
Mendelics 0 0 1 0 0 1
Lineagen, Inc 0 0 1 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, Oman 0 1 0 0 0 1

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