Submissions for variant NM_001876.4(CPT1A):c.1941C>G (p.Ala647=)

gnomAD frequency: 0.00879  dbSNP: rs115731492

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000185822	SCV000238771	benign	not specified	2014-10-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000185822	SCV000700360	benign	not specified	2017-01-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000639503	SCV000761078	benign	Carnitine palmitoyl transferase 1A deficiency	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000639503	SCV003800249	benign	Carnitine palmitoyl transferase 1A deficiency	2023-09-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004718095	SCV005321451	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000639503	SCV001456356	benign	Carnitine palmitoyl transferase 1A deficiency	2020-09-16	no assertion criteria provided	clinical testing