Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003223633 | SCV003919350 | pathogenic | not provided | 2022-10-24 | criteria provided, single submitter | clinical testing | Nonsense 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28796236) |
Centre de Recherche Saint Antoine, |
RCV000491113 | SCV000297814 | pathogenic | Silver-Russell syndrome 1 | no assertion criteria provided | research | ||
OMIM | RCV001174518 | SCV001337658 | pathogenic | Silver-Russell syndrome 5 | 2024-02-13 | no assertion criteria provided | literature only |