Submissions for variant NM_001876.4(CPT1A):c.556-16C>T

gnomAD frequency: 0.94412  dbSNP: rs3019603

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079917	SCV000111800	benign	not specified	2016-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000079917	SCV000168029	benign	not specified	2013-08-26	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.
Invitae	RCV001520686	SCV001729854	benign	Carnitine palmitoyl transferase 1A deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520686	SCV001749223	benign	Carnitine palmitoyl transferase 1A deficiency	2021-07-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079917	SCV001744737	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079917	SCV001951311	benign	not specified		no assertion criteria provided	clinical testing