ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000311183 SCV000473128 likely benign Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
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 RCV000539502 SCV000639655 likely benign Charcot-Marie-Tooth disease type 2E 2017-12-08 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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