ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) (rs1571818632)

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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 RCV000790094 SCV001336807 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790094 SCV000929484 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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