Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001459896 | SCV001663752 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001582667 | SCV001813227 | likely benign | not provided | 2019-07-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23591336) |
Centre for Population Genomics, |
RCV003380498 | SCV004098763 | likely 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 likely benign. At least the following criteria are met: Synonymous or intronic variant outside donor and acceptor splice regions where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7). |
Prevention |
RCV003975241 | SCV004798554 | likely benign | MECP2-related condition | 2021-05-19 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Rett |
RCV000170087 | SCV000222403 | benign | not specified | 2013-06-12 | no assertion criteria provided | curation |