ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) (rs1556270312)

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Total submissions: 2
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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 RCV000656398 SCV000778405 likely pathogenic Pelizaeus-Merzbacher disease 2017-06-22 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001257698 SCV001434509 likely pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing

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