Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000169927 | SCV000170221 | benign | not specified | 2013-11-25 | 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 | RCV000473085 | SCV000556756 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965052 | SCV004779801 | likely benign | MECP2-related condition | 2021-10-06 | 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 |
RCV000169927 | SCV000188168 | benign | not specified | 2010-12-03 | no assertion criteria provided | curation |