Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV005405129 | SCV006066234 | likely pathogenic | Cardiovascular phenotype | 2024-11-05 | criteria provided, single submitter | clinical testing | PVS1_strong, PM2, PP1_mod, PS4_supp |