ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1320C>T (p.Gly440=)

gnomAD frequency: 0.00001  dbSNP: rs267608621
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514986 SCV001722958 benign Severe neonatal-onset encephalopathy with microcephaly 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000866344 SCV001869252 likely benign not provided 2019-08-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19371229)
CeGaT Center for Human Genetics Tuebingen RCV000866344 SCV004165049 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing MECP2: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003965078 SCV004782110 likely benign MECP2-related condition 2023-11-10 criteria provided, single submitter 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).
RettBASE RCV000132983 SCV000187967 benign not specified 2008-04-29 no assertion criteria provided curation

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