ClinVar Miner

Variants studied for congenital hypothyroidism due to developmental anomaly

Included ClinVar conditions (3):
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
11 12 82 10 8 122

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PAX8 8 3 80 10 8 108
NKX2-5 3 0 0 0 0 3
ARID4A, PSMA3, TIMM9, TOMM20L 0 2 0 0 0 2
LINC01121 0 2 0 0 0 2
LOC108281110, PAX8 0 0 2 0 0 2
VPS13C 0 2 0 0 0 2
COPB1, CYP2R1, PDE3B, PSMA1 0 1 0 0 0 1
CYP2R1, PDE3B, PSMA1 0 1 0 0 0 1
PSMD3 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 80 6 8 94
OMIM 10 0 0 0 0 10
Molecular Endocrinology Laboratory,Poznan University of Medical Sciences 0 9 0 0 0 9
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
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.