Submissions for variant NM_001876.4(CPT1A):c.2142+8C>T

gnomAD frequency: 0.00054  dbSNP: rs147563740

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000367091	SCV000334676	likely benign	not specified	2015-08-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000367091	SCV000516057	likely benign	not specified	2017-08-02	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	RCV000639504	SCV000761079	benign	Carnitine palmitoyl transferase 1A deficiency	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001092910	SCV001249647	likely benign	not provided	2019-07-01	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001092910	SCV001959421	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001092910	SCV001967232	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000639504	SCV002092939	likely benign	Carnitine palmitoyl transferase 1A deficiency	2019-12-06	no assertion criteria provided	clinical testing