Variants studied for Blau 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	association	risk factor	not provided	total
11	1	245	106	88	3	1	80	437

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	risk factor	not provided	total
NOD2	11	1	245	106	88	3	1	80	437

Submitter and significance breakdown #

Total submitters: 13

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	risk factor	not provided	total
Invitae	4	1	205	84	33	3	1	0	331
Illumina Clinical Services Laboratory,Illumina	1	0	32	27	72	0	0	0	132
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	0	0	0	0	0	0	0	80	80
OMIM	7	0	1	0	0	0	0	0	8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	6	0	0	0	0	0	6
Baylor Genetics	0	0	2	0	0	0	0	0	2
Mendelics	0	0	2	0	0	0	0	0	2
Fulgent Genetics,Fulgent Genetics	0	0	0	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	0	0	1
Department of Genetics,Sultan Qaboos University Hospital, Oman	0	0	1	0	0	0	0	0	1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini	1	0	0	0	0	0	0	0	1
New York Genome Center	0	0	1	0	0	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.