Submissions for variant NM_001876.4(CPT1A):c.1908G>A (p.Ala636=)

gnomAD frequency: 0.00743  dbSNP: rs111407620

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000315030	SCV000340789	benign	not specified	2016-03-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000315030	SCV000732406	benign	not specified	2017-04-04	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000872599	SCV001014437	benign	Carnitine palmitoyl transferase 1A deficiency	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000872599	SCV002506323	benign	Carnitine palmitoyl transferase 1A deficiency	2022-01-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004718169	SCV005321452	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000872599	SCV001456357	benign	Carnitine palmitoyl transferase 1A deficiency	2020-09-16	no assertion criteria provided	clinical testing