ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.2163G>A (p.Glu721=) (rs62639695)

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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 RCV000175471 SCV000226953 benign not specified 2015-06-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294433 SCV000358743 benign Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing

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