ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.260T>C (p.Ile87Thr) (rs117505788)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755623 SCV000604854 benign not provided 2018-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000421096 SCV000519841 benign not specified 2016-08-02 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 RCV000370430 SCV000358776 likely benign Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553901 SCV000646038 benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2017-12-22 criteria provided, single submitter clinical testing

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