Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193407 | SCV000248980 | likely pathogenic | Familial meningioma | 2014-12-26 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000023251 | SCV000044542 | pathogenic | Coffin-Siris syndrome 5 | 2012-03-18 | no assertion criteria provided | literature only |