Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001518051 | SCV001726681 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV003380489 | SCV004098859 | 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 between 0.008% and 0.03% (BS1). The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2). |
Rett |
RCV000133305 | SCV000188314 | benign | not specified | 2011-03-29 | no assertion criteria provided | curation |