ClinVar Miner

Variants studied for Congenital hyperammonemia, type I

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
166 260 476 1110 92 3 1940

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CPS1 166 259 476 1110 92 3 1939
ABCA3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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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
Illumina Laboratory Services, Illumina 0 0 79 13 27 0 119
Counsyl 2 35 42 3 0 0 82
Myriad Genetics, Inc. 1 68 1 0 0 0 70
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 29 0 0 0 0 44
Revvity Omics, Revvity 3 7 11 0 0 0 21
Genome-Nilou Lab 0 0 5 0 15 0 20
Mendelics 6 3 2 1 1 0 13
Baylor Genetics 0 2 10 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 6 4 0 1 0 12
Laboratory of Metabolic Disorders, Peking University First Hospital 4 3 4 0 0 0 11
OMIM 11 0 0 0 0 0 11
3billion 2 1 5 2 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 9 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 7 0 0 0 8
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 3 0 5
Medical Genetics Clinic, Shanghai Children's Hospital 1 2 2 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 1 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 1 2 0 0 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
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
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
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 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 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

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