ClinVar Miner

Variants in gene CPS1

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Minimum submission review status: Collection method:
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Gene type:

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
182 341 650 1179 162 49 2274

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital hyperammonemia, type I 166 259 476 1110 92 3 1939
not provided 7 14 47 72 107 5 239
Inborn genetic diseases 2 2 159 4 0 0 167
not specified 0 0 66 49 36 0 146
Pulmonary hypertension, neonatal, susceptibility to 34 80 1 0 0 0 115
Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 7 46 14 5 2 0 74
CPS1-related disorder 1 2 7 19 5 0 34
Hepatocellular carcinoma 0 0 0 0 0 8 8
Sarcoma 0 0 0 0 0 8 8
Gastric cancer 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Lung cancer 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Cholangiocarcinoma 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Uveal melanoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM 0 0 0 0 1 0 1
Cervical cancer 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hereditary breast ovarian cancer syndrome 0 1 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Neonatal encephalopathy 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Variant of unknown significance 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 137 57 228 1084 71 0 1577
Natera, Inc. 19 80 147 21 27 0 294
GeneDx 3 7 30 91 102 0 233
Ambry Genetics 2 2 159 4 0 0 167
Baylor Genetics 34 80 11 0 0 0 125
Illumina Laboratory Services, Illumina 0 0 79 13 27 0 119
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 29 63 2 6 0 115
Counsyl 2 35 42 3 0 0 82
Breakthrough Genomics, Breakthrough Genomics 1 0 5 20 54 0 80
Fulgent Genetics, Fulgent Genetics 7 45 14 5 2 0 73
Myriad Genetics, Inc. 1 68 1 0 0 0 70
PreventionGenetics, part of Exact Sciences 1 2 7 22 19 0 51
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 41 41
CeGaT Center for Human Genetics Tuebingen 1 3 9 17 6 0 36
Mayo Clinic Laboratories, Mayo Clinic 0 1 3 1 17 0 22
Revvity Omics, Revvity 3 7 11 0 0 0 21
Genome-Nilou Lab 0 0 5 0 15 0 20
Clinical Genetics, Academic Medical Center 0 0 0 2 12 0 14
Eurofins Ntd Llc (ga) 1 0 6 1 5 0 13
Mendelics 6 3 2 1 1 0 13
OMIM 11 0 1 0 1 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 9 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 5 4 0 1 0 11
Laboratory of Metabolic Disorders, Peking University First Hospital 4 3 4 0 0 0 11
3billion 2 1 5 2 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 7 0 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 8 0 8
Genetic Services Laboratory, University of Chicago 0 1 2 4 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 5 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 4 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 3 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
Medical Genetics Clinic, Shanghai Children's Hospital 1 2 2 0 0 0 5
Dubai Health Genomic Medicine Center, Dubai Health 0 2 2 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 1 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 0 0 3
Intergen Genetics and Rare Diseases Diagnosis Center 1 1 0 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 2 0 0 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 1 1 0 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 1 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 1 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Dasa 1 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
The International Centre for Genetic Engineering and Biotechnology China Regional Research Centre 0 0 1 0 0 0 1

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