ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.584C>T (p.Ala195Val) (rs185200977)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425861 SCV000528403 likely benign not specified 2016-06-15 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000425861 SCV000604447 benign not specified 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV000531003 SCV000639663 likely benign Charcot-Marie-Tooth disease type 2E 2019-12-31 criteria provided, single submitter clinical testing

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