ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.423G>A (p.Gln141=) (rs59161567)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079790 SCV000639661 likely benign Charcot-Marie-Tooth disease type 2E 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000609209 SCV000729715 likely benign not specified 2017-06-13 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173048 SCV001336123 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057138 SCV000088251 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000609209 SCV000928961 benign not specified no assertion criteria provided literature only

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