Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002034769 | SCV002234502 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003913420 | SCV004734130 | likely benign | CDC45-related disorder | 2023-01-17 | 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). |
Seattle Children's Hospital Molecular Genetics Laboratory, |
RCV003446927 | SCV004174117 | uncertain significance | Androgen resistance syndrome | no assertion criteria provided | clinical testing |