ClinVar Miner

Variants studied for hypothyroidism, congenital, nongoitrous

Included ClinVar conditions (10):
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
55 30 204 25 33 332

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TSHR 20 13 64 7 14 111
PAX8 8 5 77 9 10 108
NKX2-5 3 2 30 4 1 40
THRA 5 5 3 0 0 13
TBL1X 4 2 6 0 4 12
TSHB 6 1 3 2 1 12
CEP128, TSHR 1 0 6 1 1 9
LOC126806316, PAX8 0 0 8 1 0 9
IRS4 3 0 1 0 2 6
TRHR 4 2 0 0 0 4
NR1D1, THRA 1 0 2 0 0 3
LOC108281110, PAX8 0 0 2 0 0 2
IGSF1 0 0 0 1 0 1
TPO 0 0 1 0 0 1
TTF1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 2 3 150 16 18 189
OMIM 48 0 0 0 0 48
Fulgent Genetics, Fulgent Genetics 2 5 29 5 1 42
Genome-Nilou Lab 0 0 0 0 15 15
SIB Swiss Institute of Bioinformatics 1 3 5 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 3 0 0 0 8
Revvity Omics, Revvity 2 1 4 0 0 7
Baylor Genetics 0 1 5 0 0 6
Genetics and Molecular Pathology, SA Pathology 2 0 3 1 0 6
Mendelics 0 0 1 4 0 5
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 2 3 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 3 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 2 0 0 3
3billion 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 1
Department of Clinical Genetics and Genetic Counseling, Mediscan Systems 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1

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