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
53 92 234 213 76 1 6 585

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Congenital hyperammonemia, type I 50 86 221 159 57 0 1 523
not specified 0 0 3 53 31 0 0 82
not provided 4 5 15 29 14 0 5 68
Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 1 1 3 0 0 0 0 5
Inborn genetic diseases 0 1 2 0 0 0 0 3
CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM 0 0 0 0 1 0 0 1
Intellectual disability 0 0 1 0 0 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 34 16 83 147 37 0 0 317
Illumina Clinical Services Laboratory,Illumina 0 0 87 13 28 0 0 128
GeneDx 3 4 3 55 35 0 0 100
Counsyl 2 35 44 3 0 0 0 84
Natera, Inc. 1 1 38 10 20 0 0 70
Myriad Women's Health, Inc. 0 26 0 0 0 0 0 26
Integrated Genetics/Laboratory Corporation of America 5 6 1 0 6 0 0 18
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 3 2 1 1 0 0 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 9 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 0 0 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,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
Baylor Genetics 0 0 3 0 0 0 0 3
Ambry Genetics 0 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 0 1 0 0 0 0 1
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
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 1

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