Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001800451 | SCV002047352 | likely benign | Rett syndrome | 2021-10-26 | reviewed by expert panel | curation | The c.225G>A (p.Pro75=) variant in MECP2 (NM_004992.3) is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2). The c.225G>A (p.Pro75=) variant is found in a patient with an alternate molecular basis of disease (internal database - Invitae) (BP5). In summary, the c.225G>A (p.Pro75=) variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS2, BP5). |
Gene |
RCV000133036 | SCV000515609 | likely benign | not specified | 2016-12-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000645113 | SCV000766855 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000133036 | SCV000188024 | benign | not specified | 2007-12-03 | no assertion criteria provided | curation |