Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV001257977 | SCV001442538 | pathogenic | Familial aplasia of the vermis | 2020-05-26 | criteria provided, single submitter | research | |
University of Washington Center for Mendelian Genomics, |
RCV001257977 | SCV001434790 | likely pathogenic | Familial aplasia of the vermis | no assertion criteria provided | research | ||
OMIM | RCV001293022 | SCV001481794 | pathogenic | Joubert syndrome 37 | 2021-02-22 | no assertion criteria provided | literature only |