ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.2677G>A (p.Gly893Arg) (rs200407689)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428378 SCV000536593 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing
Invitae RCV001080412 SCV001019660 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2020-09-02 criteria provided, single submitter clinical testing

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