ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.45A>C (p.Gly15=)

dbSNP: rs1369488698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001393403 SCV001595065 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-05-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531206 SCV004732893 likely benign MECP2-related disorder 2022-01-19 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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