Variants studied for carnitine palmitoyl transferase II deficiency, myopathic form

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	83	26	6	155

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	76	23	6	137
CPT2, LOC129930561	2	6	7	3	0	18

Submitter and significance breakdown #

Total submitters: 17

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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
Mendelics	2	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	0	2
Molecular Genetics, Royal Melbourne Hospital	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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