Submissions for variant NM_000098.3(CPT2):c.1512G>T (p.Pro504=)

dbSNP: rs150953507

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001718891	SCV000719733	likely benign	not provided	2021-02-22	criteria provided, single submitter	clinical testing
Invitae	RCV000635373	SCV000756782	benign	Carnitine palmitoyltransferase II deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003226339	SCV003922503	likely benign	not specified	2023-03-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451408	SCV004179572	likely benign	Encephalopathy, acute, infection-induced, susceptibility to, 4	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451405	SCV004179573	likely benign	Carnitine palmitoyl transferase II deficiency, severe infantile form	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451407	SCV004179574	likely benign	Carnitine palmitoyl transferase II deficiency, neonatal form	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451406	SCV004180551	likely benign	Carnitine palmitoyl transferase II deficiency, myopathic form	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927980	SCV004741103	likely benign	CPT2-related condition	2019-11-22	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).