ClinVar Miner

Variants studied for Citrullinemia type I

Coded as:
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
79 138 144 27 28 10 347

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
ASS1 78 138 104 22 25 10 298
SLC25A13 1 0 25 4 2 0 32
ASS1, LOC130002809 0 0 7 1 1 0 9
LOC129998833, SLC25A13 0 0 8 0 0 0 8

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 58 47 1 0 0 0 106
Illumina Laboratory Services, Illumina 1 1 81 6 11 0 100
Natera, Inc. 22 6 38 19 12 0 97
Counsyl 2 42 21 2 0 0 67
Fulgent Genetics, Fulgent Genetics 23 31 5 0 0 0 59
Revvity Omics, Revvity 10 8 4 0 0 0 22
Genome-Nilou Lab 1 4 5 0 10 0 20
OMIM 17 0 0 0 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 0 1 10 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 3 0 0 0 0 15
GeneReviews 2 0 0 0 0 10 12
Myriad Genetics, Inc. 1 9 1 0 0 0 11
3billion 5 4 1 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 4 1 2 0 0 0 7
Labcorp Genetics (formerly Invitae), Labcorp 3 2 0 0 0 0 5
Mendelics 2 0 1 1 1 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 1 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 0 0 3
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1

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