Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV000490913 | SCV000579400 | pathogenic | ARMC9-related Joubert syndrome | 2017-05-01 | no assertion criteria provided | research | |
OMIM | RCV000515485 | SCV000611585 | pathogenic | Joubert syndrome 30 | 2017-11-20 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001034541 | SCV001197902 | likely pathogenic | Familial aplasia of the vermis | no assertion criteria provided | research |