Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV001257976 | SCV001442533 | pathogenic | Familial aplasia of the vermis | 2020-05-26 | criteria provided, single submitter | research | |
Gene |
RCV001776163 | SCV002013719 | uncertain significance | not provided | 2021-10-12 | criteria provided, single submitter | clinical testing | Observed with another FAM179B (TOGARAM1) variant on the opposite allele (in trans) in a fetus with vermis hypoplasia, polydactyly, and dysmorphic features (Latour et al., 2019); Functional studies demonstrated that this variant was associated with impaired interaction with ARMC9 (Latour et al., 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32453716) |
University of Washington Center for Mendelian Genomics, |
RCV001257976 | SCV001434789 | likely pathogenic | Familial aplasia of the vermis | no assertion criteria provided | research | ||
OMIM | RCV001293021 | SCV001481793 | pathogenic | Joubert syndrome 37 | 2021-02-22 | no assertion criteria provided | literature only |