ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu)

dbSNP: rs61748408
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000445574 SCV000537186 likely pathogenic Rett syndrome 2015-07-14 criteria provided, single submitter clinical testing Lack of normal physiological development

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