Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000656438 | SCV000678325 | likely pathogenic | Intellectual disability | 2017-01-01 | criteria provided, single submitter | research | |
Gene |
RCV003128633 | SCV003806114 | pathogenic | not provided | 2022-08-24 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation, as the last 176 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD and the published literature (Stenson et al., 2014; Basilicata et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30224647) |
OMIM | RCV000851338 | SCV000993641 | pathogenic | Basilicata-Akhtar syndrome | 2022-08-05 | no assertion criteria provided | literature only |