ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1197_1199del (p.Pro403del)

dbSNP: rs267608339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602397 SCV000719392 likely benign not specified 2017-05-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003638623 SCV004489442 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-11-10 criteria provided, single submitter clinical testing
RettBASE RCV000132915 SCV000187896 not provided not provided no assertion provided not provided

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