Variants studied for carnitine palmitoyl transferase II deficiency, neonatal 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	not provided	total
17	30	84	27	11	1	163

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	14	24	77	24	10	1	144
CPT2, LOC129930561	3	6	7	3	1	0	19

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Genome-Nilou Lab	0	0	77	24	10	0	111
Fulgent Genetics, Fulgent Genetics	11	8	44	15	0	0	78
Counsyl	0	18	0	0	0	0	18
OMIM	5	0	0	0	0	0	5
Baylor Genetics	4	1	0	0	0	0	5
Myriad Genetics, Inc.	0	3	2	0	0	0	5
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	2	0	0	0	0	2
Phosphorus, Inc.	0	0	0	0	2	0	2
Molecular Biology Laboratory, Fundació Puigvert	1	1	0	0	0	0	2
3billion	0	0	2	0	0	0	2
Knight Diagnostic Laboratories, Oregon Health and Sciences University	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	0	1

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