ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.186G>A (p.Lys62=) (rs372405586)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720096 SCV000520509 likely benign not provided 2019-11-06 criteria provided, single submitter clinical testing
Invitae RCV000645451 SCV000767196 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2017-08-15 criteria provided, single submitter clinical testing

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