ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.227C>T (p.Ala76Val)

dbSNP: rs1170786711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV000789466 SCV001337454 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789466 SCV000928822 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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