ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.2145_2147GGA[6] (p.Glu722_Glu723del) (rs113541584)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175470 SCV000226952 benign not specified 2015-03-31 criteria provided, single submitter clinical testing
Invitae RCV000544028 SCV000646020 benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2017-08-08 criteria provided, single submitter clinical testing

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