Variants studied for Blau syndrome

Minimum submission review status:		Collection method:
Minimum conflict level:
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	risk factor	not provided	total
9	0	110	59	9	4	80	228

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	risk factor	not provided	total
NOD2	9	110	59	9	4	80	228

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	uncertain significance	likely benign	benign	risk factor	not provided	total
Illumina Clinical Services Laboratory,Illumina	0	28	56	9	0	0	93
Invitae	4	77	2	0	4	0	87
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	0	0	0	0	0	80	80
OMIM	7	1	0	0	0	0	8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	3	0	0	0	0	3
Mendelics	0	2	0	0	0	0	2
Fulgent Genetics,Fulgent Genetics	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Department of Genetics,Sultan Qaboos University Hospital, Oman	0	1	0	0	0	0	1

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