Variants studied for Norman-Roberts 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
13	6	185	26	58	282

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
RELN	11	3	145	20	42	216
RELN, SLC26A5	2	3	35	4	14	57
LOC126860130, RELN, SLC26A5	0	0	3	1	2	6
LOC126860131, RELN	0	0	2	1	0	3

Submitter and significance breakdown #

Total submitters: 21

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	146	22	49	217
Revvity Omics, Revvity	1	1	21	0	0	23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	2	8	1	1	13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	3	10	13
Baylor Genetics	0	2	9	0	0	11
Genome-Nilou Lab	0	0	0	0	11	11
Genetic Services Laboratory, University of Chicago	5	0	0	0	0	5
OMIM	3	0	0	0	0	3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	2	0	0	2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	0	2	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Mendelics	0	0	0	0	1	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	0	1
Istanbul Faculty of Medicine, Istanbul University	1	0	0	0	0	1
New York Genome Center	0	0	1	0	0	1
3billion, Medical Genetics	0	0	0	1	0	1

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