Submissions for variant NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)

gnomAD frequency: 0.05682  dbSNP: rs2229738

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180224	SCV000232620	benign	not specified	2014-12-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000055868	SCV000743873	benign	Carnitine palmitoyl transferase 1A deficiency	2015-08-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000055868	SCV000883678	benign	Carnitine palmitoyl transferase 1A deficiency	2023-10-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000055868	SCV001720276	benign	Carnitine palmitoyl transferase 1A deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000055868	SCV001737345	benign	Carnitine palmitoyl transferase 1A deficiency	2021-06-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000180224	SCV002050932	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004704832	SCV005219343	likely benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000055868	SCV000086871	not provided	Carnitine palmitoyl transferase 1A deficiency		no assertion provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000055868	SCV000733095	benign	Carnitine palmitoyl transferase 1A deficiency		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000055868	SCV001460477	benign	Carnitine palmitoyl transferase 1A deficiency	2020-09-16	no assertion criteria provided	clinical testing