ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.1782C>T (p.Ser594=) (rs147136365)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434658 SCV000522656 likely benign not specified 2016-01-06 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.
Invitae RCV000874212 SCV001016348 likely benign Charcot-Marie-Tooth disease type 4 2020-10-14 criteria provided, single submitter clinical testing

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