Variants studied for Familial cold autoinflammatory syndrome 3

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
4	2	598	567	97	1268

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	total
PLCG2	4	2	597	567	97	1267
BCO1, CMIP, GAN, GCSH, PKD1L2, PLCG2	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	1	1	596	567	91	1256
Genome-Nilou Lab	0	0	0	0	13	13
OMIM	3	0	0	0	0	3
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Center for Precision Medicine, Vanderbilt University Medical Center	0	0	1	0	0	1
Genomics Facility, Ludwig-Maximilians-Universität München	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1

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