Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719906 | SCV000513571 | likely benign | not provided | 2021-05-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000456666 | SCV000556754 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001719906 | SCV002822051 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | MECP2: BP4, BS2 |
Centre for Population Genomics, |
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). |
Rett |
RCV000132963 | SCV000187947 | benign | not specified | 2013-12-05 | no assertion criteria provided | curation |