ClinVar Miner

Variants studied for Ornithine aminotransferase deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
101 100 182 286 24 620

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 total
OAT 89 88 174 254 23 562
LOC121815974, OAT 10 12 8 32 1 56
NKX1-2, OAT 1 0 0 0 0 1
RIMS1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 75 19 138 283 14 529
Baylor Genetics 19 41 1 0 0 61
Natera, Inc. 9 2 28 13 3 55
Illumina Laboratory Services, Illumina 1 0 37 2 9 49
OMIM 34 0 0 0 2 36
Fulgent Genetics, Fulgent Genetics 8 21 5 1 1 36
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 33 0 0 0 33
Genome-Nilou Lab 1 0 1 0 5 7
Revvity Omics, Revvity 1 2 1 0 0 4
Counsyl 2 0 0 0 1 3
Sharon lab, Hadassah-Hebrew University Medical Center 2 1 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 0 2
DBGen Ocular Genomics 1 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1

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