Variants studied for carnitine palmitoyl transferase 1A 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
90	102	229	532	35	26	945

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
CPT1A	82	94	215	503	33	25	887
CPT1A, LOC126861244	8	8	14	29	2	1	58

Submitter and significance breakdown #

Total submitters: 25

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	79	26	177	527	28	0	837
Natera, Inc.	4	2	71	16	13	0	106
Baylor Genetics	10	39	1	0	0	0	50
Counsyl	0	31	7	1	0	0	39
GeneReviews	1	0	0	0	0	26	27
Genome-Nilou Lab	0	0	6	0	13	0	19
Myriad Genetics, Inc.	1	15	0	0	0	0	16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	3	11	0	14
Fulgent Genetics, Fulgent Genetics	1	1	10	2	0	0	14
OMIM	11	0	0	0	0	0	11
Revvity Omics, Revvity	1	1	7	0	0	0	9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	2	0	0	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	3	0	0	0	3
Genetics and Molecular Pathology, SA Pathology	0	0	1	1	0	0	2
Institute of Human Genetics, University Hospital Muenster	0	2	0	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	2	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	1	0	1
Mendelics	0	1	0	0	0	0	1
Ege University Pediatric Genetics, Ege University	0	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	1
Pars Genome Lab	0	0	0	1	0	0	1
3billion	1	0	0	0	0	0	1
Suma Genomics	1	0	0	0	0	0	1

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