Variants studied for Temple-Baraitser syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	2	9	4	2	22

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	2	9	4	2	22

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	1	0	0	3	1	5
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	1	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	1

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