ClinVar Miner

Variants studied for carnitine palmitoyl transferase II deficiency, myopathic form

Included ClinVar conditions (3):
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
19 29 84 26 6 156

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 total
CPT2 17 23 77 23 6 138
CPT2, LOC129930561 2 6 7 3 0 18

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 77 23 6 106
Fulgent Genetics, Fulgent Genetics 11 8 44 15 0 78
Counsyl 0 18 0 0 0 18
OMIM 10 0 0 0 0 10
MGZ Medical Genetics Center 2 0 3 0 0 5
Myriad Genetics, Inc. 0 3 2 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
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 Program, Stanford Medicine 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 1

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