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
6	4	168	49	57	98	348

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
NLRP3	6	4	168	40	48	98	330
NLRP12	0	0	0	8	9	0	17
PLCG2	0	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	3	1	123	30	1	0	158
Illumina Laboratory Services, Illumina	0	0	37	19	54	0	110
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	0	0	0	0	0	98	98
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	7	0	0	0	7
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
Genetics and Molecular Pathology, SA Pathology	0	1	0	1	0	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
GenomeConnect, ClinGen	0	0	0	0	0	1	1
New York Genome Center	0	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	1	0	0	0	0	1

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