Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000170079 | SCV000520946 | pathogenic | not provided | 2022-08-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21953941) |
Rett |
RCV000170079 | SCV000222390 | pathogenic | not provided | 2013-06-12 | no assertion criteria provided | curation |