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	not provided	total
10	2	52	27	72	82	206

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
NOD2	10	2	37	26	60	79	177
CYLD, NOD2	0	0	15	1	12	3	29

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	1	0	32	27	72	0	132
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	0	0	0	0	0	80	80
OMIM	7	0	1	0	0	0	8
Revvity Omics, Revvity	0	0	4	0	0	0	4
Baylor Genetics	0	0	2	0	0	0	2
Mendelics	0	0	2	0	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	1	0	0	0	0	2
New York Genome Center	0	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	2	0	0	0	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	0	1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini	1	0	0	0	0	0	1
Lifecell International Pvt. Ltd	1	0	0	0	0	0	1
3billion	0	0	1	0	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	1

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