ClinVar Miner

Variants studied for Ornithine carbamoyltransferase deficiency

Coded as:
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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
70 27 29 9 13 140

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 total
OTC 69 27 29 9 13 139
ATP6AP2, BCOR, CFAP47, CXorf21, CXorf22, CXorf30, CXorf38, CYBB, DMD, DYNLT3, FAM47A, FAM47B, FAM47C, FTHL17, FTHL18, GK, H2AP, LANCL3, MAGEB16, MED14, MID1IP1, MPC1L, NR0B1, OTC, PRRG1, RPGR, SRPX, SYTL5, TAB3, TMEM47, TSPAN7, USP9X, XK 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 10 18 7 7 65
OMIM 27 0 0 0 0 27
Molecular Genetics laboratory,Necker Hospital 22 0 0 0 0 22
Illumina Clinical Services Laboratory,Illumina 0 0 7 3 8 18
Mendelics 4 4 1 0 2 11
Integrated Genetics/Laboratory Corporation of America 3 4 0 0 0 7
Caldovic Lab,Children's National Health System 0 6 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 5 5
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 2 0 0 2
Counsyl 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1

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