Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000477708 | SCV000564196 | pathogenic | Pontocerebellar hypoplasia type 7 | 2017-04-15 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000477708 | SCV000993505 | likely pathogenic | Pontocerebellar hypoplasia type 7 | 2017-07-16 | no assertion criteria provided | research |