Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081213 | SCV000113121 | benign | not specified | 2013-10-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704000 | SCV000513564 | likely benign | not provided | 2018-04-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16376510, 17387578) |
Invitae | RCV001522063 | SCV001731529 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV003380416 | SCV004098804 | 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 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). The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2). |
Rett |
RCV000081213 | SCV000188250 | benign | not specified | 2010-03-10 | no assertion criteria provided | curation |