Submissions for variant NM_001876.4(CPT1A):c.556-19T>G

gnomAD frequency: 0.00984  dbSNP: rs117610994

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079918	SCV000111801	benign	not specified	2014-04-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000079918	SCV000238768	benign	not specified	2014-07-17	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	RCV001516155	SCV001724387	benign	Carnitine palmitoyl transferase 1A deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001516155	SCV001749224	benign	Carnitine palmitoyl transferase 1A deficiency	2021-07-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001516155	SCV003799604	benign	Carnitine palmitoyl transferase 1A deficiency	2023-11-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004717945	SCV005321468	benign	not provided		criteria provided, single submitter	not provided