ClinVar Miner

Variants studied for Carnitine palmitoyl transferase II deficiency, myopathic form

Coded as:
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 total
14 22 81 23 6 142

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CPT2 13 18 74 20 6 127
CPT2, LOC129930561 1 4 7 3 0 15

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 77 23 6 106
Counsyl 0 18 0 0 0 18
OMIM 10 0 0 0 0 10
MGZ Medical Genetics Center 2 0 3 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 2 0 0 4
Molecular Genetics, Royal Melbourne Hospital 3 0 0 0 0 3
Mendelics 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.