Variants studied for Ververi-Brady 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
26	18	14	0	0	55

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
QRICH1	26	18	14	55

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
Institute of Human Genetics, University of Leipzig Medical Center	20	13	2	35
OMIM	7	0	0	7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	3	0	4
Revvity Omics, Revvity	0	1	3	4
Mendelics	2	0	1	3
Baylor Genetics	0	0	2	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	2
Institute of Human Genetics, University Hospital of Duesseldorf	1	1	0	2
Institute of Human Genetics, University of Goettingen	0	1	0	1
MGZ Medical Genetics Center	1	0	0	1
Illumina Laboratory Services, Illumina	0	0	1	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	1	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	1
Undiagnosed Diseases Network, NIH	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	1
New York Genome Center	0	0	1	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	1	1

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