Submissions for variant NM_006158.5(NEFL):c.639C>G (p.Ile213Met)

gnomAD frequency: 0.00065  dbSNP: rs62636522

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081393	SCV000563616	likely benign	Charcot-Marie-Tooth disease type 2E	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000507003	SCV000604449	benign	not specified	2018-10-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000057142	SCV000714728	likely benign	not provided	2019-05-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16930284, 20039262, 17052987, 32376792)
CeGaT Center for Human Genetics Tuebingen	RCV000057142	SCV000892829	uncertain significance	not provided	2023-10-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001160882	SCV001322718	benign	Charcot-Marie-Tooth disease type 1F	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173051	SCV001336126	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362689	SCV002658837	uncertain significance	Inborn genetic diseases	2023-12-19	criteria provided, single submitter	clinical testing	Unlikely to be causative of autosomal dominant NEFL-related Charcot-Marie-Tooth disease Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000057142	SCV000088255	not provided	not provided		no assertion provided	not provided
Inherited Neuropathy Consortium	RCV000507003	SCV000928962	uncertain significance	not specified		no assertion criteria provided	literature only
Clinical Genetics, Academic Medical Center	RCV000507003	SCV001919054	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000057142	SCV001969688	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925018	SCV004738130	likely benign	NEFL-related disorder	2021-04-09	no assertion criteria provided	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).