ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.173T>A (p.Val58Asp) (rs1571820049)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198086 SCV001368871 likely pathogenic Pes cavus; Distal lower limb amyotrophy; Intrinsic hand muscle atrophy; Foot dorsiflexor weakness; EMG: slow motor conduction 2019-02-16 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM4. This variant was detected in heterozygous state.
Inherited Neuropathy Consortium RCV000790089 SCV000929479 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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