ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg)

gnomAD frequency: 0.00002  dbSNP: rs61754444
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000981151 SCV001129118 benign Severe neonatal-onset encephalopathy with microcephaly 2024-04-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001725999 SCV001962675 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003380473 SCV004098794 likely benign 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 Likely benign. At least the following criteria are met: The variant is observed in at least 1 individual with no features of Rett Syndrome (BS2_Supporting).
RettBASE RCV000133040 SCV000188028 benign not specified 2007-11-01 no assertion criteria provided curation

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