ClinVar Miner

Variants studied for Hypothyroidism, congenital, nongoitrous, 2

Coded as:
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
8 5 86 10 10 118

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PAX8 8 5 77 9 10 108
LOC126806316, PAX8 0 0 7 1 0 8
LOC108281110, PAX8 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 1 80 6 8 95
OMIM 7 0 0 0 0 7
Revvity Omics, Revvity 0 0 4 0 0 4
Mendelics 0 0 0 4 0 4
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 2 0 0 0 3
Baylor Genetics 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1

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