ClinVar Miner

Variants studied for inherited thyroid metabolism disease

Included ClinVar conditions (20):
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 not provided total
176 106 844 91 155 1 1326

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TG 28 8 238 25 26 0 316
DUOX2 31 40 203 17 17 0 291
THRB 51 14 102 16 64 0 243
TPO 26 13 84 6 19 1 145
PAX8 8 5 77 9 10 0 108
SLC5A5 11 3 73 12 7 0 103
NKX2-5 3 2 30 4 1 0 40
DUOXA2 9 6 1 0 5 0 17
SLA, TG 0 0 9 1 3 0 13
LOC126806630, THRB 3 0 7 0 1 0 11
LOC126806104, TPO 0 2 8 0 0 0 9
LOC126806316, PAX8 0 0 8 1 0 0 9
IYD 5 4 0 0 2 0 7
ARID4A, PSMA3, TIMM9, TOMM20L 0 2 0 0 0 0 2
LINC01121 0 2 0 0 0 0 2
LOC108281110, PAX8 0 0 2 0 0 0 2
VPS13C 0 2 0 0 0 0 2
COPB1, CYP2R1, PDE3B, PSMA1 0 1 0 0 0 0 1
CYP2R1, PDE3B, PSMA1 0 1 0 0 0 0 1
DUOXA1, DUOXA2 1 0 0 0 0 0 1
FBXO31 0 0 1 0 0 0 1
PSMD3 0 1 0 0 0 0 1
TTF1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 8 7 714 79 133 0 941
Fulgent Genetics, Fulgent Genetics 13 13 64 9 2 0 101
OMIM 93 0 1 0 0 0 94
Revvity Omics, Revvity 9 8 45 0 0 0 62
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 14 0 0 0 0 43
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 27 2 7 0 0 0 36
Juno Genomics, Hangzhou Juno Genomics, Inc 16 9 1 0 0 0 26
Baylor Genetics 6 1 15 0 0 0 22
Genome-Nilou Lab 0 0 0 0 22 0 22
3billion 9 7 6 0 0 0 22
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 19 0 20
Mendelics 2 0 5 4 6 0 17
Genetics and Molecular Pathology, SA Pathology 4 8 5 0 0 0 17
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 4 8 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 4 2 5 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 5 0 0 0 10
Molecular Endocrinology Laboratory, Poznan University of Medical Sciences 0 9 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 1 0 0 0 8
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 3 1 1 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 2 2 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 4 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 2 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 2 0 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 0 1 0 0 0 2
Department of Molecular Bıology and Genetics, Istanbul Technical University 0 2 0 0 0 0 2
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 2 0 0 0 0 0 2
Suma Genomics 0 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 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 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 1
Weiss Lab, University of Miami 1 0 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1

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