ClinVar Miner

Variants in gene CPS1

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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 risk factor not provided total
27 51 124 124 69 1 6 332

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Congenital hyperammonemia, type I 23 47 117 18 16 0 1 209
not provided 4 4 13 63 47 0 5 122
not specified 0 0 3 53 31 0 0 82
Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 1 1 3 0 0 0 0 5
CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM 0 0 0 0 1 0 0 1
Pulmonary hypertension, neonatal, susceptibility to 0 0 0 0 0 1 0 1
See cases 0 0 1 0 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 5 7 30 53 37 0 0 132
GeneDx 3 4 3 55 35 0 0 100
Counsyl 2 35 44 3 0 0 0 84
Illumina Clinical Services Laboratory,Illumina 0 0 51 10 9 0 0 70
PreventionGenetics,PreventionGenetics 0 0 0 3 14 0 0 17
OMIM 11 0 1 0 1 1 0 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 6 1 5 0 0 13
Mendelics 4 4 1 1 1 0 0 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 9 0 0 10
Integrated Genetics/Laboratory Corporation of America 0 2 1 0 5 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 2 4 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 3 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 3 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 0 0 4
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 1 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1

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