ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) (rs3832558)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080241 SCV000563620 benign Charcot-Marie-Tooth disease type 2E 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000481083 SCV000566893 benign not specified 2016-09-21 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.
OMIM RCV000015076 SCV000035332 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1f 2004-02-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057123 SCV000088236 not provided not provided no assertion provided not provided

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