ClinVar Miner

Variants studied for Carnitine palmitoyl transferase 1A deficiency

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
85 99 229 532 35 26 937

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 77 91 215 503 33 25 879
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 74 25 177 527 28 0 831
Natera, Inc. 4 2 71 16 13 0 106
Baylor Genetics 7 37 2 0 0 0 46
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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