Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000436298 | SCV000514337 | benign | not specified | 2015-09-16 | 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 | RCV000549744 | SCV000636679 | likely benign | Martsolf syndrome; Warburg micro syndrome 2 | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003972579 | SCV004795064 | likely benign | RAB3GAP2-related condition | 2019-03-01 | 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). |