Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001310755 | SCV000728728 | likely benign | not provided | 2020-12-02 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 11309367, 12161600, 23810759) |
Invitae | RCV000861155 | SCV001001388 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001310755 | SCV001500677 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | MECP2: BS2 |
Centre for Population Genomics, |
RCV003380460 | SCV004098863 | 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 higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 2.0 (BA1). |
Rett |
RCV000132956 | SCV000187938 | benign | not specified | 2013-12-05 | no assertion criteria provided | curation |