ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.49G>A (p.Ala17Thr) (rs797045890)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192345 SCV000248534 uncertain significance not specified 2015-07-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197987 SCV001368772 uncertain significance Pelizaeus-Merzbacher disease 2019-04-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311093 SCV001501136 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331308 SCV001523325 uncertain significance Hereditary spastic paraplegia 2 2019-08-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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