ClinVar Miner

Variants in gene CPT1A

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
49 40 108 145 28 338

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Carnitine palmitoyltransferase 1A deficiency 46 37 95 113 16 287
not specified 0 0 2 34 17 53
not provided 7 2 20 14 7 50
CARNITINE PALMITOYLTRANSFERASE IA POLYMORPHISM 0 0 0 0 1 1
CPT1A ARCTIC VARIANT 1 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 15 7 51 118 14 205
Natera, Inc. 2 0 46 7 10 65
GeneDx 1 1 1 35 20 58
Counsyl 0 31 7 1 0 39
GeneReviews 33 0 0 0 0 33
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 0 9 1 10 26
OMIM 12 0 0 0 1 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 2 3 7
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 3 1 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Baylor Genetics 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 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
Department of Pathology and Laboratory Medicine,Sinai Health System 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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