Submissions for variant NM_006158.4(NEFL):c.639C>G (p.Ile213Met) (rs62636522)

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Total submissions: 8

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001081393	SCV000563616	likely benign	Charcot-Marie-Tooth disease type 2E	2019-12-23	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	RCV000507003	SCV000714728	likely benign	not specified	2017-06-05	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.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000057142	SCV000892829	uncertain significance	not provided	2019-01-01	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001160882	SCV001322718	benign	Charcot-Marie-Tooth disease, demyelinating, 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
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

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