ClinVar Miner

Variants studied for Autosomal recessive congenital ichthyosis 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
130 31 71 4 11 225

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALOX12B 120 26 67 4 11 207
ALOX12B, LOC130060196 5 3 3 0 0 10
ALOXE3 2 1 0 0 0 3
SULT2B1 3 0 0 0 0 3
ALOX12B, LOC130060195 0 0 1 0 0 1
ALOXE3, LOC130060198 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Institute for Human Genetics, University Medical Center Freiburg 117 0 0 0 0 117
Illumina Laboratory Services, Illumina 1 1 51 4 8 65
Fulgent Genetics, Fulgent Genetics 6 13 0 0 0 19
Uitto Lab, Thomas Jefferson University 6 6 2 0 0 14
OMIM 13 0 0 0 0 13
Baylor Genetics 1 3 4 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 3 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 4
3billion 2 1 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Mendelics 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 2 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 1 0 0 0 1

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