ClinVar Miner

Variants studied for citrullinemia

Included ClinVar conditions (8):
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
269 252 331 775 65 26 1512

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ASS1 137 151 180 355 36 10 743
SLC25A13 130 97 131 409 26 15 732
LOC129998833, SLC25A13 2 4 12 7 0 1 22
ASS1, LOC130002809 0 0 7 1 1 0 9
ASS1, LOC110121061 0 0 0 3 0 0 3
ARSA 0 0 0 0 2 0 2
ABL1, ASS1, EXOSC2, FUBP3, PRDM12 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 230 60 190 757 45 0 1282
Baylor Genetics 88 117 3 0 0 0 207
Natera, Inc. 28 11 58 25 19 0 141
Illumina Laboratory Services, Illumina 4 1 114 8 16 0 137
Counsyl 2 42 21 2 0 0 67
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 32 21 0 0 0 0 53
Fulgent Genetics, Fulgent Genetics 12 6 11 0 0 0 29
GeneReviews 2 0 0 0 0 25 27
Genome-Nilou Lab 1 4 9 0 12 0 26
OMIM 24 0 0 0 0 0 24
Revvity Omics, Revvity 10 8 4 0 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 0 1 10 0 15
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 12 0 0 0 0 0 12
Myriad Genetics, Inc. 1 9 1 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 1 2 0 0 0 8
3billion 3 2 1 1 0 0 7
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 1 3 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 4 1 1 0 0 0 6
Mendelics 2 0 1 1 1 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 2 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 4 0 0 0 0 0 4
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 3 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Department of Pediatrics, The First Affiliated Hospital, Jinan University 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
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Central Laboratory, The First Affiliated Hospital, Jinan University 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 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
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
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
Royal Medical Services, Bahrain Defence Force Hospital 1 0 0 0 0 0 1

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