Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003142511 | SCV003807031 | uncertain significance | Kleefstra syndrome 2 | 2023-02-01 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderated, PM4 |