ClinVar Miner

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 RCV000057118 SCV000513922 benign not provided 2019-01-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12566280, 22765307, 17052987)
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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