ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu)

gnomAD frequency: 0.00005  dbSNP: rs62915962
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001310755 SCV000728728 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11309367, 12161600, 23810759)
Invitae RCV000861155 SCV001001388 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310755 SCV001500677 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing MECP2: BS2
Centre for Population Genomics, CPG RCV003380460 SCV004098863 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).
RettBASE RCV000132956 SCV000187938 benign not specified 2013-12-05 no assertion criteria provided curation

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