ClinVar Miner

Variants in gene CYP4F22

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Minimum submission review status: Collection method:
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Gene type:
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
53 18 120 43 60 257

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 15 6 35 37 60 144
Autosomal recessive congenital ichthyosis 5 45 9 52 6 15 122
Inborn genetic diseases 0 0 37 1 0 38
Lamellar ichthyosis 7 4 0 0 0 11
not specified 0 0 8 2 1 11
CYP4F22-related disorder 0 1 0 7 2 10
Congenital ichthyosiform erythroderma 0 0 2 0 1 3
Atopic eczema; Ichthyosis 0 0 2 0 0 2
Bladder exstrophy-epispadias-cloacal extrophy complex 0 0 1 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 9 1 17 32 19 78
GeneDx 8 5 9 1 42 65
Illumina Laboratory Services, Illumina 0 0 44 6 12 62
Institute for Human Genetics, University Medical Center Freiburg 43 0 0 0 0 43
Ambry Genetics 0 0 37 1 0 38
Breakthrough Genomics, Breakthrough Genomics 0 0 5 4 27 36
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 4 8 1 0 20
PreventionGenetics, part of Exact Sciences 0 1 0 7 3 11
Fulgent Genetics, Fulgent Genetics 3 4 0 0 0 7
CeGaT Center for Human Genetics Tuebingen 1 0 4 2 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 2
3billion 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
Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine 0 0 1 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 1

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