Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198160 | SCV000252223 | benign | not specified | 2014-07-11 | 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. |
Fulgent Genetics, |
RCV002492904 | SCV002796771 | likely benign | Mitochondrial complex 4 deficiency, nuclear type 4 | 2021-10-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515430 | SCV003491812 | likely benign | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004541265 | SCV004758010 | likely benign | SCO1-related disorder | 2020-03-20 | 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). |