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
22 17 17 2 19 2 74

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 16 11 14 1 15 1 55
ABCA12, SNHG31 6 6 3 1 4 1 19

Submitter and significance breakdown #

Total submitters: 26
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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
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
3billion 1 0 3 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 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
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

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