ClinVar Miner

Variants studied for Hypothyroidism due to TSH receptor mutations

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
26 17 69 9 15 1 131

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TSHR 25 17 63 7 14 1 121
CEP128, TSHR 1 0 5 1 1 0 8
IGSF1 0 0 0 1 0 0 1
TPO 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 2 2 65 8 10 0 87
OMIM 17 0 0 0 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 7 0 0 0 0 14
Genome-Nilou Lab 0 0 0 0 6 0 6
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre 3 1 1 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 2 0 1 1 0 0 4
3billion 0 2 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 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 2
Baylor Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1

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