ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) (rs1569427275)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemistry Laboratory of CDMU,Chengde Medical University RCV000768444 SCV000899204 likely pathogenic Pelizaeus-Merzbacher disease no assertion criteria provided case-control

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