ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu)

gnomAD frequency: 0.00009  dbSNP: rs61750243
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081213 SCV000113121 benign not specified 2013-10-11 criteria provided, single submitter clinical testing
GeneDx RCV001704000 SCV000513564 likely benign not provided 2018-04-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16376510, 17387578)
Invitae RCV001522063 SCV001731529 benign Severe neonatal-onset encephalopathy with microcephaly 2023-12-30 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003380416 SCV004098804 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 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 2 individuals with no features of Rett Syndrome (BS2).
RettBASE RCV000081213 SCV000188250 benign not specified 2010-03-10 no assertion criteria provided curation

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