Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431822 | SCV000527608 | likely benign | not specified | 2016-12-15 | 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. |
Genetic Services Laboratory, |
RCV000431822 | SCV000595099 | likely benign | not specified | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000883327 | SCV001026624 | benign | Methylmalonic acidemia with homocystinuria, type cblX | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942400 | SCV004764825 | likely benign | HCFC1-related condition | 2019-10-02 | 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). |