ClinVar Miner

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

Included ClinVar conditions (3):
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
11 52 31 0 3 92

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CPT2 11 52 31 3 92

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance benign total
Counsyl 1 50 20 0 71
Fulgent Genetics,Fulgent Genetics 4 2 6 0 12
Baylor Genetics 5 1 4 0 10
OMIM 6 0 0 0 6
Mendelics 1 0 0 2 3
Myriad Women's Health, Inc. 3 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 2
Phosphorus, Inc. 0 0 0 2 2
Pars Genome Lab 1 0 1 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 1

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