ClinVar Miner

Variants studied for generalized resistance to thyroid hormone

Included ClinVar conditions (9):
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
61 28 210 23 73 391

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
THRB 47 12 85 9 61 211
PAX8 8 5 77 9 10 108
NKX2-5 3 2 30 4 1 40
LOC126806630, THRB 3 0 6 0 1 10
LOC126806316, PAX8 0 0 8 1 0 9
ARID4A, PSMA3, TIMM9, TOMM20L 0 2 0 0 0 2
LINC01121 0 2 0 0 0 2
LOC108281110, PAX8 0 0 2 0 0 2
VPS13C 0 2 0 0 0 2
COPB1, CYP2R1, PDE3B, PSMA1 0 1 0 0 0 1
CYP2R1, PDE3B, PSMA1 0 1 0 0 0 1
FBXO31 0 0 1 0 0 1
PSMD3 0 1 0 0 0 1
TTF1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 1 161 14 70 246
OMIM 42 0 0 0 0 42
Fulgent Genetics, Fulgent Genetics 2 1 28 6 1 38
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 27 2 7 0 0 36
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 4 0 0 0 20
Molecular Endocrinology Laboratory, Poznan University of Medical Sciences 0 9 0 0 0 9
Mendelics 0 0 1 4 0 5
Revvity Omics, Revvity 0 0 4 0 0 4
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 2 0 0 0 3
Baylor Genetics 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
3billion 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 0 1 0 0 1
Laboratório Bases Genéticas das Doenças Endocrinológicas, Faculdade de Medicina de Botucatu, Universidade Estadual Paulista 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 1

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