ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.422T>G (p.Val141Gly)

dbSNP: rs1057518804
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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 RCV000414897 SCV000492615 uncertain significance Respiratory distress; Spasticity; Tongue fasciculations 2015-11-11 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196207 SCV001366749 uncertain significance Roussy-Lévy syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.

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