Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000006394 | SCV002512302 | likely pathogenic | Sialuria | 2021-06-23 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS3 supporting, PS4 supporting, PM1 moderate, PM2 moderate, PP3 supporting |
OMIM | RCV000006394 | SCV000026576 | pathogenic | Sialuria | 1999-06-01 | no assertion criteria provided | literature only | |
Gene |
RCV000006394 | SCV000054605 | not provided | Sialuria | no assertion provided | literature only |