ClinVar Miner

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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