ClinVar Miner

Variants studied for carnitine palmitoyl transferase II deficiency, severe infantile form

Included ClinVar conditions (4):
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
20 64 99 26 11 205

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 53 91 23 10 180
CPT2, LOC129930561 3 11 8 3 1 25

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 11 33 77 23 10 154
Fulgent Genetics, Fulgent Genetics 11 8 44 15 0 78
Counsyl 1 50 20 0 0 71
Baylor Genetics 5 1 4 0 0 10
Myriad Genetics, Inc. 3 3 2 0 0 8
OMIM 6 0 0 0 0 6
Mendelics 1 0 0 0 2 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 2
Phosphorus, Inc. 0 0 0 0 2 2
Pars Genome Lab 1 0 1 0 0 2
3billion 2 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Inherited and Metabolic Disease Clinic, Tianjin Women and Children's Health Center 0 0 1 0 0 1

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