ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.2164G>A (p.Glu722Lys) (rs201551894)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608453 SCV000716748 likely benign not specified 2017-03-20 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 RCV000386414 SCV000358742 uncertain significance Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000560820 SCV000646021 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2017-06-26 criteria provided, single submitter clinical testing

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