Variants studied for Familial cold autoinflammatory syndrome 1

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
5	2	37	11	46	98	178

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
NLRP3	5	2	37	11	46	98	178

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	0	0	0	0	0	98	98
Illumina Laboratory Services, Illumina	0	0	34	10	43	0	87
OMIM	5	0	0	0	0	0	5
Genome-Nilou Lab	0	0	0	0	3	0	3
Mendelics	0	0	0	0	2	0	2
Baylor Genetics	0	0	1	0	0	0	1
MGZ Medical Genetics Center	0	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	0	1	0	0	1
Undiagnosed Diseases Network, NIH	0	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	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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