ClinVar Miner

Variants studied for Ornithine aminotransferase deficiency

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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
94 80 182 271 24 589

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
OAT 83 71 174 240 23 533
LOC121815974, OAT 10 9 8 31 1 55
RIMS1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 71 17 138 268 14 508
Natera, Inc. 9 2 28 13 3 55
Baylor Genetics 18 32 1 0 0 51
Illumina Laboratory Services, Illumina 1 0 38 2 9 50
OMIM 34 0 0 0 2 36
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 33 0 0 0 33
Fulgent Genetics, Fulgent Genetics 2 3 5 1 1 12
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 2
DBGen Ocular Genomics 1 0 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1

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