ClinVar Miner

Variants studied for autosomal recessive congenital ichthyosis 1

Included ClinVar conditions (1):
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
94 110 144 35 26 1 333

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 93 108 138 35 25 1 323
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: 32
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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 57 39 0 0 0 0 96
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
OMIM 39 0 0 0 0 0 39
Myriad Genetics, Inc. 3 19 2 0 0 0 24
Fulgent Genetics, Fulgent Genetics 9 5 5 1 0 0 20
Uitto Lab, Thomas Jefferson University 6 5 2 0 0 0 13
Revvity Omics, Revvity 6 4 2 0 0 0 12
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 3 2 0 0 0 8
3billion 2 3 2 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 3
Mendelics 0 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 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 1 1 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
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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