Submissions for variant NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) (rs57153321)

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Total submissions: 7

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Clinical Services Laboratory,Illumina	RCV000311183	SCV000473128	benign	Charcot-Marie-Tooth disease, demyelinating, type 1f	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000444012	SCV000513922	likely benign	not specified	2017-07-03	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.
Invitae	RCV001082150	SCV000639655	likely benign	Charcot-Marie-Tooth disease type 2E	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000057118	SCV001155380	likely benign	not provided	2019-03-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173044	SCV001336119	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000057118	SCV000088231	not provided	not provided		no assertion provided	not provided
Inherited Neuropathy Consortium	RCV000444012	SCV000928966	likely benign	not specified		no assertion criteria provided	literature only

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