Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002132511 | SCV002402883 | benign | Diamond-Blackfan anemia | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004754849 | SCV005353209 | likely benign | RPL11-related disorder | 2024-08-06 | no assertion criteria provided | 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). |