Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001514986 | SCV001722958 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000866344 | SCV001869252 | likely benign | not provided | 2019-08-22 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19371229) |
Ce |
RCV000866344 | SCV004165049 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | MECP2: BP4, BS2 |
Prevention |
RCV003965078 | SCV004782110 | likely benign | MECP2-related condition | 2023-11-10 | 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 |
RCV000132983 | SCV000187967 | benign | not specified | 2008-04-29 | no assertion criteria provided | curation |