ClinVar Miner

Variants studied for autosomal recessive congenital ichthyosis 4A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
25 19 21 3 19 2 83

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 not provided total
ABCA12 19 13 16 2 15 1 63
ABCA12, SNHG31 6 6 5 1 4 1 20

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 0 0 0 17 0 17
OMIM 13 0 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 0 2 3 2 0 0 7
Uitto Lab, Thomas Jefferson University 0 4 3 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 2 2 2 0 0 0 6
Narges Medical Genetic and Prenatal Diagnosis Lab 1 3 2 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 2 0 0 0 4
3billion 1 0 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Breda Genetics srl 1 0 1 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 1 0 0 0 0 0 1

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