ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.953G>T (p.Arg318Leu)

dbSNP: rs61751443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001420142 SCV001622403 pathogenic Rett syndrome 2021-05-13 criteria provided, single submitter clinical testing
RettBASE RCV000133291 SCV000188300 not provided not provided no assertion provided not provided

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