ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.2235C>T (p.Pro745=) (rs1323858843)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000932315 SCV001077997 likely benign not provided 2018-12-18 criteria provided, single submitter clinical testing
Invitae RCV001498901 SCV001703655 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2018-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000932315 SCV001805244 likely benign not provided 2020-10-22 no assertion criteria provided clinical testing

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