ClinVar Miner

Variants in gene CPS1

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 risk factor not provided total
20 43 116 73 41 1 6 250

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Congenital hyperammonemia, type I 16 39 111 22 25 0 1 198
not specified 0 0 3 53 31 0 0 82
not provided 4 4 10 3 5 0 5 28
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
Venoocclusive disease after bone marrow transplantation, susceptibility to 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Counsyl 2 35 44 3 0 0 0 84
GeneDx 3 4 3 47 26 0 0 83
Illumina Clinical Services Laboratory,Illumina 0 0 51 10 9 0 0 70
Invitae 2 3 23 5 14 0 0 47
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
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 1 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 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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