Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001551873 | SCV001772468 | pathogenic | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27620904) |
Service de Génétique Moléculaire, |
RCV001257006 | SCV001433562 | likely pathogenic | Rare genetic intellectual disability | no assertion criteria provided | clinical testing |