Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003142367 | SCV003807938 | uncertain significance | Pilarowski-Bjornsson syndrome | 2022-12-07 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderated, PP2 supporting, PP3 supporting |