ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.1659C>G (p.Ala553=) (rs188104446)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174806 SCV000226176 benign not specified 2015-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000174806 SCV000520626 likely benign not specified 2017-01-11 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.
Illumina Clinical Services Laboratory,Illumina RCV000462267 SCV000378191 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462267 SCV000558956 benign Charcot-Marie-Tooth disease type 4 2017-07-26 criteria provided, single submitter clinical testing

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