Submissions for variant NM_000098.3(CPT2):c.1806T>C (p.Phe602=)

gnomAD frequency: 0.00245  dbSNP: rs147953465

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001082115	SCV000632597	benign	Carnitine palmitoyltransferase II deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000596578	SCV000702018	uncertain significance	not provided	2016-09-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001082115	SCV001253051	uncertain significance	Carnitine palmitoyltransferase II deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001264437	SCV001442588	benign	not specified	2020-10-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001449948	SCV001653453	likely benign	Carnitine palmitoyl transferase II deficiency, neonatal form	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000596578	SCV001893212	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000596578	SCV003916458	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	CPT2: BP4, BP7, BS2
Natera, Inc.	RCV001082115	SCV001454245	benign	Carnitine palmitoyltransferase II deficiency	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001264437	SCV001932257	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000596578	SCV001965359	likely benign	not provided		no assertion criteria provided	clinical testing