ClinVar Miner

Variants studied for carnitine palmitoyltransferase II deficiency

Included ClinVar conditions (6):
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
69 68 196 92 17 2 393

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CPT2 69 68 195 91 16 2 390
CPT2, CZIB 0 0 1 1 1 0 3

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 51 9 128 85 13 0 286
Counsyl 1 51 20 0 0 0 72
Natera, Inc. 7 2 39 6 7 0 61
Illumina Clinical Services Laboratory,Illumina 3 0 45 7 6 0 61
GeneReviews 19 0 1 0 3 0 23
OMIM 17 0 0 0 0 0 17
Fulgent Genetics,Fulgent Genetics 4 2 6 0 0 0 12
Integrated Genetics/Laboratory Corporation of America 9 2 0 0 0 0 11
Baylor Genetics 5 1 4 0 0 0 10
Mendelics 1 0 0 0 2 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 2 0 0 0 3
Myriad Women's Health, Inc. 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
Phosphorus, Inc. 0 0 0 0 2 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 0 0 0 2
Pars Genome Lab 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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