Variants studied for periodic fever-infantile enterocolitis-autoinflammatory 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	total
5	2	395	212	25	636

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	total
NLRC4	5	2	392	212	25	633
NLRC4, SLC30A6, SPAST	0	0	2	0	0	2
DPY30, MEMO1, NLRC4, SLC30A6, SPAST, SRD5A2, XDH	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	total
Labcorp Genetics (formerly Invitae), Labcorp	3	0	390	211	25	629
Fulgent Genetics, Fulgent Genetics	0	0	4	1	0	5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	4	0	0	4
OMIM	2	0	0	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	2	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Baylor Genetics	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1
Illumina Laboratory Services, Illumina	1	0	0	0	0	1
Center for Human Genetics, University of Leuven	1	0	0	0	0	1
Clinical Bioinformatic Lab, Royan Institute	0	1	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	1	0	1
3billion	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1
Healthincode, Healthincode group	0	0	1	0	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	0	1

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