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
39 33 36 44 25 162

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Carnitine palmitoyltransferase I deficiency 33 31 7 1 1 68
not specified 0 0 2 34 17 53
not provided 6 1 19 3 8 37
Carnitine palmitoyl transferase 1 deficiency 6 1 11 6 8 32
CARNITINE PALMITOYLTRANSFERASE IA POLYMORPHISM 0 0 0 0 1 1
CPT deficiency, hepatic, type IA 0 0 1 0 0 1
CPT1A ARCTIC VARIANT 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
GeneDx 1 1 1 35 20 58
Counsyl 0 31 6 1 0 38
GeneReviews 33 0 0 0 0 33
Invitae 6 1 11 6 8 32
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 0 0 3 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 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

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