ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.617T>G (p.Met206Arg)

dbSNP: rs1556269487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000590967 SCV000700170 likely pathogenic Pelizaeus-Merzbacher disease 2016-11-21 criteria provided, single submitter clinical testing

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