ClinVar Miner

Variants studied for carnitine palmitoyl transferase 1A deficiency

Included ClinVar conditions (1):
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
47 37 95 113 16 288

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
CPT1A 46 37 95 113 16 287
​intergenic 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 15 7 51 111 14 198
Natera, Inc. 2 0 46 7 10 65
Counsyl 0 31 7 1 0 39
GeneReviews 34 0 0 0 0 34
OMIM 11 0 0 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
Baylor Genetics 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Mendelics 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Nilou-Genome Lab 0 0 0 0 1 1
Pars Genome Lab 0 0 0 1 0 1

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