ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.*8503dup

dbSNP: rs267608360
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Population Genomics, CPG RCV003389402 SCV004101582 benign Rett syndrome 2023-10-11 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 benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 2.0 (BA1).
RettBASE RCV000132813 SCV000187790 benign not specified 2010-03-10 no assertion criteria provided curation

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