ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn)

gnomAD frequency: 0.00001  dbSNP: rs62707562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002055850 SCV002329988 benign Severe neonatal-onset encephalopathy with microcephaly 2023-12-14 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003380461 SCV004098747 uncertain significance Rett syndrome 2023-08-14 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria.Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 2.0, this variant is classified as a variant of uncertain significance. At least the following criteria are met: The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2,PMID: 12707946).
RettBASE RCV000132961 SCV000187944 benign not specified 2006-04-21 no assertion criteria provided curation

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