Variants studied for Carnitine palmitoyltransferase II deficiency

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	not provided	total
130	28	354	409	18	22	897

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CPT2	119	26	309	366	16	21	798
CPT2, LOC129930561	11	2	44	42	1	1	96
CPT2, CZIB	0	0	1	1	1	0	3

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	129	21	293	402	16	0	861
Natera, Inc.	13	4	95	11	8	0	131
Illumina Laboratory Services, Illumina	3	0	45	7	6	0	61
GeneReviews	1	0	1	0	0	21	23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	15	6	0	0	0	0	21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	2	0	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	1	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Reproductive Health Research and Development, BGI Genomics	1	0	0	0	0	0	1

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