Variants studied for PEHO 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	not provided	total
4	1	1	1	0	1	7

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	not provided	total
KIF1A	3	0	0	0	0	3
ZNHIT3	1	1	1	1	0	3
CCDC88A	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	not provided	total
Child and Family Research Institute	3	0	0	0	0	3
OMIM	1	0	0	0	0	1
Baylor Genetics	0	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies	0	0	0	0	1	1
New York Genome Center	0	1	0	0	0	1

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