Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003326330 | SCV004032925 | likely pathogenic | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | AP1S2: PM2, PP1:Moderate, PP3, PP4, PS3:Supporting |
OMIM | RCV000011527 | SCV000031759 | pathogenic | Pettigrew syndrome | 2007-11-01 | no assertion criteria provided | literature only |