ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.414C>T (p.Phe138=) (rs375075005)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540593 SCV000646051 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000604106 SCV000716504 likely benign not specified 2017-03-03 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.

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