Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000133211 | SCV000724296 | likely benign | not specified | 2017-11-02 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000133211 | SCV001362258 | likely benign | not specified | 2019-06-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001500045 | SCV001704822 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895010 | SCV004717990 | likely benign | MECP2-related condition | 2023-04-18 | 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 |
RCV000133211 | SCV000188209 | benign | not specified | 2006-02-03 | no assertion criteria provided | curation |