ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) (rs1557137042)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512893 SCV000609422 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Mendelics RCV000991004 SCV001142092 likely pathogenic Rett syndrome 2019-05-28 criteria provided, single submitter clinical testing

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