ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del)

dbSNP: rs267608392
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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 RCV001418755 SCV001620992 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-12-09 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV004527338 SCV005040748 likely benign Rett syndrome 2024-05-03 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 3.0, this variant is classified as likely benign. At least the following criteria are met: This variant is present in 21 indivisuals in gnomAD v4 including 5 hemizygotes. The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2).
RettBASE RCV000132884 SCV000187864 not provided not provided no assertion provided not provided

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