ClinVar Miner

Variants studied for central congenital hypothyroidism

Included ClinVar conditions (4):
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
20 6 12 11 11 56

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
IGSF1 10 3 7 1 7 27
TSHB 6 1 3 2 1 12
FANCB 0 0 0 6 0 6
TRH 0 0 1 0 3 4
TRHR 4 2 0 0 0 4
AOPEP, FANCC 0 0 1 2 0 3

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 16 0 0 0 0 16
Genome-Nilou Lab 0 0 0 0 11 11
Leiden Open Variation Database 0 0 1 8 0 9
Revvity Omics, Revvity 2 1 3 0 0 6
Illumina Laboratory Services, Illumina 0 1 2 2 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Fulgent Genetics, Fulgent Genetics 2 0 0 1 0 3
SIB Swiss Institute of Bioinformatics 1 2 0 0 0 3
3billion 1 0 1 0 0 2
Baylor Genetics 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
New York Genome Center 0 0 1 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 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 1

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