ClinVar Miner

Variants in gene CARS2

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 not provided total
5 4 206 110 37 1 347

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Combined oxidative phosphorylation deficiency 27 4 1 204 71 15 1 291
not specified 0 0 0 36 12 0 48
not provided 0 3 2 18 15 0 38
Inborn genetic diseases 1 0 5 0 0 0 6
Alpers encephalopathy 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 197 78 15 0 290
GeneDx 0 3 2 40 25 0 70
Baylor Genetics 0 0 8 0 0 0 8
Ambry Genetics 1 0 5 0 0 0 6
OMIM 3 0 0 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
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
CeGaT Praxis fuer Humangenetik Tuebingen 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

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