ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1119C>T (p.Pro373=)

dbSNP: rs782803951
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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 RCV001481724 SCV001686072 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734208 SCV005363479 likely benign MECP2-related disorder 2023-12-07 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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