ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) (rs781816931)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193848 SCV000247939 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001088048 SCV000645657 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659186 SCV000781003 likely benign not provided 2018-01-01 criteria provided, single submitter clinical testing

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