ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.1112G>A (p.Cys371Tyr) (rs1603377813)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University RCV001004826 SCV000986694 likely pathogenic Mental retardation 30, X-linked 2019-08-27 no assertion criteria provided clinical testing

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