ClinVar Miner

Variants in gene CARS2

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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 not provided total
7 4 331 295 79 2 689

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Combined oxidative phosphorylation defect type 27 5 2 308 263 27 2 596
not provided 0 3 26 33 56 0 117
Inborn genetic diseases 2 0 37 1 0 0 40
not specified 0 0 3 22 11 0 36
CARS2-related condition 0 0 0 15 5 0 20
See cases 0 0 2 0 0 0 2
Alpers encephalopathy 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 301 263 24 0 588
GeneDx 0 3 24 49 65 0 141
Ambry Genetics 2 0 37 1 0 0 40
PreventionGenetics, part of Exact Sciences 0 0 0 15 5 0 20
Baylor Genetics 0 0 8 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 6 2 0 0 8
CeGaT Center for Human Genetics Tuebingen 0 0 1 6 0 0 7
Revvity Omics, Revvity 0 0 5 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
OMIM 4 0 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 1 0 0 4
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 0 1 0 0 0 0 1

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