Variants studied for Caffey disease

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
18	10	133	28	17	5	207

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
COL1A1	15	9	132	26	16	5	199
COL1A1, LOC126862586	2	1	1	2	1	0	7
A4GALT	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	122	20	15	0	156
Fulgent Genetics, Fulgent Genetics	14	2	9	8	4	0	37
Mendelics	2	4	0	0	0	0	6
Baylor Genetics	0	1	2	0	0	0	3
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	3	3
OMIM	2	0	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	1	1	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	1	0	2
GeneReviews	0	0	0	0	0	1	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	0	0	1
DASA	0	1	0	0	0	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	0	1	0	0	0	1

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