ClinVar Miner

Variants studied for Temple-Baraitser syndrome

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
7 3 13 4 2 27

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNH1 7 3 13 4 2 27

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 1 0 3 3 1 8
OMIM 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 4
New York Genome Center 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Dept of Pediatrics, Guizhou Children's Hospital, Affiliated Hospital of Zunyi Medical University 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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