Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV000760245 | SCV000890079 | pathogenic | Coffin-Lowry syndrome; Intellectual disability, X-linked 19 | 2016-12-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000760245 | SCV000936246 | pathogenic | Coffin-Lowry syndrome; Intellectual disability, X-linked 19 | 2021-08-24 | criteria provided, single submitter | clinical testing | |
3billion | RCV000210889 | SCV002058626 | pathogenic | Coffin-Lowry syndrome | 2022-01-03 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000225519, PMID:9837815). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Laboratory Genomica, |
RCV000210889 | SCV000267157 | pathogenic | Coffin-Lowry syndrome | 2015-11-17 | no assertion criteria provided | clinical testing | Premature stop codon formation |