Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001444193 | SCV001647189 | likely benign | Schimke immuno-osseous dysplasia | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001444193 | SCV002798547 | likely benign | Schimke immuno-osseous dysplasia | 2021-10-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900525 | SCV004713285 | likely benign | SMARCAL1-related condition | 2021-06-01 | 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). |