Variants studied for autosomal recessive congenital ichthyosis 5

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
45	9	55	6	15	123

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
CYP4F22	45	9	54	6	15	122
CYP4F22, LOC130063829	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	46	6	11	63
Institute for Human Genetics, University Medical Center Freiburg	43	0	0	0	0	43
Fulgent Genetics, Fulgent Genetics	3	4	0	0	0	7
OMIM	5	0	0	0	0	5
Genome-Nilou Lab	0	0	0	0	5	5
Baylor Genetics	2	0	2	0	0	4
Uitto Lab, Thomas Jefferson University	0	2	2	0	0	4
Neuberg Centre For Genomic Medicine, NCGM	0	0	3	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	2	0	0	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	1	0	0	0	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	1	0	0	2
3billion, Medical Genetics	2	0	0	0	0	2
Narges Medical Genetic and Prenatal Diagnosis Lab	0	0	2	0	0	2
Revvity Omics, Revvity	1	0	0	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	1
Human Genetics Section, Sidra Medicine	0	1	0	0	0	1
Suma Genomics	0	1	0	0	0	1

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