ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.741G>A (p.Glu247=)

dbSNP: rs2148663015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001564515 SCV001787693 likely benign not provided 2019-04-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002569024 SCV003506935 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536191 SCV004716498 likely benign MECP2-related disorder 2022-10-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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