Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001582495 | SCV001817928 | pathogenic | not provided | 2020-02-03 | criteria provided, single submitter | clinical testing | Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 49 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27895973, 25790162, 22305528) |
OMIM | RCV000023354 | SCV000044645 | pathogenic | Mandibulofacial dysostosis-microcephaly syndrome | 2012-02-10 | no assertion criteria provided | literature only |