ClinVar Miner

Variants in gene TG

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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 risk factor not provided total
142 53 375 1112 179 4 1 1696

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 122 39 61 1070 179 0 0 1444
Iodotyrosyl coupling defect 26 6 231 25 26 0 0 307
Inborn genetic diseases 0 0 113 10 0 0 0 123
TG-related condition 0 2 10 28 7 0 0 47
not specified 0 0 8 14 17 0 0 39
Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 2 1 15 1 0 0 0 19
Congenital hypothyroidism 6 4 0 1 1 0 1 13
Autoimmune thyroid disease, susceptibility to, 3 1 1 1 0 0 4 0 7
TG-Related Disorders 1 2 0 0 0 0 0 3
Hypothyroidism 0 1 1 0 0 0 0 2
Thyroid dyshormonogenesis 0 0 2 0 0 0 0 2
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 1
Premature ovarian failure 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 119 29 2 1052 123 0 0 1325
Illumina Laboratory Services, Illumina 1 0 205 25 20 0 0 251
Ambry Genetics 0 0 113 10 0 0 0 123
GeneDx 5 8 35 2 62 0 0 112
PreventionGenetics, part of Exact Sciences 0 2 10 33 20 0 0 65
CeGaT Center for Human Genetics Tuebingen 1 2 19 28 4 0 0 54
Revvity Omics, Revvity 2 1 23 0 0 0 0 26
Clinical Genetics, Academic Medical Center 1 0 2 8 9 0 0 20
OMIM 14 0 1 0 0 4 0 19
Fulgent Genetics, Fulgent Genetics 2 1 15 1 0 0 0 19
Genome-Nilou Lab 0 0 0 0 15 0 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 2 8 2 0 0 13
Polak associated Lab, IMAGINE Institute 6 4 0 1 1 0 0 12
Baylor Genetics 3 0 8 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 3 5 0 0 0 11
Genetic Services Laboratory, University of Chicago 1 0 5 3 1 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 8 0 0 9
Genetics and Molecular Pathology, SA Pathology 1 2 1 0 0 0 0 4
Mendelics 0 0 2 0 1 0 0 3
Eurofins Ntd Llc (ga) 2 0 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 1 0 0 0 0 0 2
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 0 1
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg 1 0 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 0 1
Weiss Lab, University of Miami 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1

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