ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196160 SCV001366681 pathogenic Pelizaeus-Merzbacher disease 2019-04-04 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PS1,PS3,PP3. This variant was detected in hemizygous state.

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