ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)

dbSNP: rs1571819946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001662819 SCV001880050 pathogenic not provided 2020-11-23 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene.
Inherited Neuropathy Consortium RCV000789715 SCV000929091 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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