ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.840G>A (p.Arg280=)

gnomAD frequency: 0.00001  dbSNP: rs2065942686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001532222 SCV001747676 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003638794 SCV004377418 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-11-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734224 SCV005363145 likely benign MECP2-related disorder 2024-08-08 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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