Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000133200 | SCV000247986 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001719908 | SCV000513562 | likely benign | not provided | 2020-10-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17387578, 12872250, 12111644, 22615490, 17046689, 23912219, 10767337) |
Invitae | RCV000460836 | SCV000556740 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV003990996 | SCV004808983 | 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 |
RCV000133200 | SCV000188198 | benign | not specified | 2011-02-15 | no assertion criteria provided | curation |