Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Personalized Medicine, |
RCV003156079 | SCV003845229 | likely pathogenic | See cases | 2022-12-21 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000169689 | SCV000221226 | pathogenic | Keppen-Lubinsky syndrome | 2015-02-05 | no assertion criteria provided | literature only |