ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)

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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 RCV001172764 SCV001335831 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195847 SCV001366267 uncertain significance Charcot-Marie-Tooth disease, demyelinating, type 4F 2019-01-03 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2.

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