ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.879G>A (p.Pro293=) (rs2233340)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476686 SCV000562109 benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000607533 SCV000719367 likely benign not specified 2017-05-17 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 RCV001174347 SCV001337483 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286100 SCV001472625 benign Charcot-Marie-Tooth disease, type 4D 2019-12-18 criteria provided, single submitter clinical testing

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