Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523815 | SCV000617313 | pathogenic | not provided | 2021-12-20 | 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22544367, 26293599) |
SIB Swiss Institute of Bioinformatics | RCV000024371 | SCV000994930 | pathogenic | Koolen-de Vries syndrome | 2019-06-05 | criteria provided, single submitter | curation | This variant is interpreted as a Pathogenic for Koolen-De Vries syndrome, autosomal dominant. The following ACMG Tag(s) were applied: PM2: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM6: Assumed de novo, but without confirmation of paternity and maternity. PVS1: Predicted nullvariant in a gene where LOF is a known mechanism of disease. |
Génétique des Maladies du Développement, |
RCV001255390 | SCV001431790 | pathogenic | Global developmental delay | 2019-11-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000024371 | SCV000045664 | pathogenic | Koolen-de Vries syndrome | 2012-04-29 | no assertion criteria provided | literature only | |
Gene |
RCV000024371 | SCV000055761 | pathologic | Koolen-de Vries syndrome | 2012-11-20 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |