ClinVar Miner

Variants in gene CPT1A

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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 not provided total
79 94 243 537 66 26 964

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Carnitine palmitoyl transferase 1A deficiency 77 91 215 503 33 25 879
not provided 7 3 31 26 35 1 99
not specified 0 0 4 27 15 0 45
Inborn genetic diseases 2 0 33 7 0 0 42
CPT1A-related condition 1 1 2 20 3 0 27
CARNITINE PALMITOYLTRANSFERASE IA POLYMORPHISM 0 0 0 0 1 0 1
CPT1A ARCTIC VARIANT 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 68 23 166 498 26 0 781
GeneDx 1 3 11 44 48 0 107
Natera, Inc. 4 2 67 14 12 0 99
Baylor Genetics 6 34 2 0 0 0 42
Ambry Genetics 2 0 33 7 0 0 42
Counsyl 0 29 6 1 0 0 36
PreventionGenetics, part of Exact Sciences 1 1 2 20 3 0 27
GeneReviews 1 0 0 0 0 25 26
Eurofins Ntd Llc (ga) 6 0 9 1 9 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 4 11 0 17
Genome-Nilou Lab 0 0 5 0 12 0 17
Myriad Genetics, Inc. 1 15 0 0 0 0 16
Fulgent Genetics, Fulgent Genetics 1 1 9 2 0 0 13
CeGaT Center for Human Genetics Tuebingen 1 0 5 7 0 0 13
OMIM 11 0 0 0 1 0 11
Revvity Omics, Revvity 1 1 6 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 3 2 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 1 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Suma Genomics 1 0 0 0 0 0 1

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