ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1242C>T (p.Pro414=)

gnomAD frequency: 0.00019  dbSNP: rs63586860
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719906 SCV000513571 likely benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000456666 SCV000556754 benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001719906 SCV002822051 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing MECP2: BP4, BS2
Centre for Population Genomics, CPG RCV003990977 SCV004808990 benign Rett syndrome 2024-03-13 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 3.0, 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 3.0 (BA1).
RettBASE RCV000132963 SCV000187947 benign not specified 2013-12-05 no assertion criteria provided curation

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