Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550233 | SCV000637222 | benign | Diamond-Blackfan anemia | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821535 | SCV002067644 | likely benign | not specified | 2018-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491007 | SCV002801811 | likely benign | Diamond-Blackfan anemia 9 | 2022-02-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962501 | SCV004784435 | likely benign | RPS10-related condition | 2019-08-15 | 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). |