Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082748 | SCV001107508 | benign | Oxoglutaricaciduria | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000676713 | SCV004156853 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | OGDH: BP4, BP7, BS2 |
Prevention |
RCV003907938 | SCV004736044 | benign | OGDH-related condition | 2019-11-01 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Mayo Clinic Laboratories, |
RCV000676713 | SCV000802513 | likely benign | not provided | 2016-02-26 | no assertion criteria provided | clinical testing |