Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990427 | SCV001141413 | likely pathogenic | Congenital glucose-galactose malabsorption | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000990427 | SCV003806925 | likely pathogenic | Congenital glucose-galactose malabsorption | 2023-02-02 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderated, PM3 supporting, PM5 moderated, PP3 supporting, PP4 |