ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.413+28A>G

gnomAD frequency: 0.00301  dbSNP: rs185036026
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics RCV000172865 SCV000223851 benign Rett syndrome criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000168681 SCV001158762 benign not specified 2018-10-22 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV000172865 SCV004098846 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 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). The variant is observed in at least 1 individual with no features of Rett Syndrome (BS2_Supporting)
RettBASE RCV000144104 SCV000189180 not provided not provided flagged submission not provided
RettBASE RCV000168681 SCV000222408 benign not specified 2013-12-05 no assertion criteria provided curation

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