Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996636 | SCV001151455 | likely pathogenic | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Suma Genomics | RCV001827145 | SCV002097018 | pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | criteria provided, single submitter | clinical testing |