Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198668 | SCV001369663 | pathogenic | Coffin-Siris syndrome 1 | 2019-10-22 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4. |
Ambry Genetics | RCV001265674 | SCV001443841 | pathogenic | Inborn genetic diseases | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001533083 | SCV001748903 | pathogenic | ARID1B-related BAFopathy | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001198668 | SCV002054265 | pathogenic | Coffin-Siris syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003229021 | SCV003925995 | pathogenic | not provided | 2023-05-16 | 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 (gnomAD); This variant is associated with the following publications: (PMID: 23815551, 30349098) |