ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1458T>C (p.Pro486=)

dbSNP: rs1557134910
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601197 SCV000729553 likely benign not specified 2018-01-29 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.
Athena Diagnostics Inc RCV000712282 SCV000842732 uncertain significance not provided 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV003638694 SCV004452938 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-04-16 criteria provided, single submitter clinical testing

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