Variants studied for Catel-Manzke 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
10	4	5	0	0	18

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
TGDS	6	4	5	14
KYNU	3	0	0	3
KYNU, LOC126806361, LOC129934866	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	6	0	0	6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	4	0	0	4
Revvity Omics, Revvity	0	1	2	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	2
CHU Sainte-Justine Research Center, University of Montreal	0	2	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	1	0	1	2
Fulgent Genetics, Fulgent Genetics	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	1

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