Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001683727 | SCV001905521 | pathogenic | not provided | 2021-09-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683727 | SCV004034364 | pathogenic | not provided | 2023-09-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28135719, 28191890, 28628100, 25533962, 32694869) |
Fondazione Telethon, |
RCV001029745 | SCV001169155 | likely pathogenic | Intellectual disability | no assertion criteria provided | clinical testing | ||
OMIM | RCV001375920 | SCV001572900 | pathogenic | Blepharophimosis-impaired intellectual development syndrome | 2021-04-30 | no assertion criteria provided | literature only |