Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV002247278 | SCV002518641 | pathogenic | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 2022-05-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000008988 | SCV000029202 | pathogenic | Congenital generalized lipodystrophy type 3 | 2008-04-01 | no assertion criteria provided | literature only |