ClinVar Miner

Submissions for variant NM_006245.4(PPP2R5D):c.649T>C (p.Phe217Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003387562 SCV004099018 likely pathogenic Hogue-Janssens syndrome 1 2023-08-03 criteria provided, single submitter clinical testing PS2, PM2, PP2

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