ClinVar Miner

Variants studied for peripheral hypothyroidism

Included ClinVar conditions (2):
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
15 6 8 0 0 29

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
THRA 5 5 3 13
SECISBP2 8 1 3 12
NR1D1, THRA 1 0 2 3
TRU-TCA1-1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 9 0 0 9
Baylor Genetics 1 0 2 3
Revvity Omics, Revvity 1 1 1 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1
MGZ Medical Genetics Center 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1
Mendelics 0 0 1 1
Illumina Laboratory Services, Illumina 0 0 1 1
Institute of metabolic science 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 1

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