ClinVar Miner

Variants studied for Autosomal recessive congenital ichthyosis 1

Coded as:
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 not provided total
100 139 146 35 26 1 367

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TGM1 99 137 140 35 25 1 357
LOC107882126, TGM1 0 2 5 0 1 0 8
SULT2B1 1 0 0 0 0 0 1
TGM1, TINF2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 27 2 53 25 24 0 131
Baylor Genetics 60 51 0 0 0 0 111
Illumina Laboratory Services, Illumina 1 1 59 9 7 0 77
Counsyl 14 36 26 0 0 0 76
Genome-Nilou Lab 23 26 1 4 13 0 67
Fulgent Genetics, Fulgent Genetics 23 32 5 1 0 0 61
OMIM 39 0 0 0 0 0 39
Myriad Genetics, Inc. 3 19 2 0 0 0 24
Uitto Lab, Thomas Jefferson University 6 5 2 0 0 0 13
Revvity Omics, Revvity 6 4 2 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 4 4 3 0 0 0 11
3billion, Medical Genetics 2 3 2 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Mendelics 0 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 2
Medical Genetics Laboratory, West China Hospital, Sichuan University 2 0 0 0 0 0 2
Narges Medical Genetic and Prenatal Diagnosis Lab 0 0 2 0 0 0 2
Institute for Human Genetics, University Medical Center Freiburg 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Laboratorio de Medicina Genomica, Instituto Nacional de Rehabilitacion Luis Guillermo Ibarra Ibarra 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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