Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000677086 | SCV000728676 | likely benign | not provided | 2019-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000677086 | SCV001036007 | benign | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953079 | SCV004778017 | likely benign | MARS2-related condition | 2019-12-02 | 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). |
Mayo Clinic Laboratories, |
RCV000677086 | SCV000802925 | likely benign | not provided | 2017-12-28 | no assertion criteria provided | clinical testing |