ClinVar Miner

Variants studied for inborn disorder of ornithine metabolism

Included ClinVar conditions (14):
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
141 125 531 485 49 3 1225

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
ALDH18A1 38 25 350 199 25 3 603
OAT 89 88 173 254 23 0 562
LOC121815974, OAT 10 12 8 32 1 0 56
ALDH18A1, ENTPD1, TCTN3 1 0 0 0 0 0 1
ALDH18A1, LOC121815958 1 0 0 0 0 0 1
NKX1-2, OAT 1 0 0 0 0 0 1
RIMS1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 97 30 439 477 26 0 1069
Illumina Laboratory Services, Illumina 2 1 82 6 25 0 116
Baylor Genetics 19 43 7 0 0 0 69
OMIM 53 0 0 0 2 0 55
Natera, Inc. 9 2 28 13 3 0 55
Fulgent Genetics, Fulgent Genetics 8 21 12 2 2 0 45
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 33 0 0 0 0 33
Genome-Nilou Lab 1 0 1 0 12 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 3 0 0 0 0 9
3billion, Medical Genetics 4 3 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 4 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 3 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 3 0 0 0 5
Revvity Omics, Revvity 1 2 1 0 0 0 4
Counsyl 2 0 0 0 1 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 2 1 0 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
DBGen Ocular Genomics 1 0 1 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Department of Pediatrics, University of Modena and Reggio Emilia 1 0 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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