ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) (rs138160928)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000219132 SCV000613270 uncertain significance not specified 2017-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000219132 SCV000278977 likely benign not specified 2017-09-08 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 RCV000168099 SCV000378185 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000168099 SCV000218755 likely benign Charcot-Marie-Tooth disease type 4 2017-12-04 criteria provided, single submitter clinical testing

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