Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics and Genomic Medicine, |
RCV003993701 | SCV004811994 | uncertain significance | Silver-Russell syndrome 5 | 2024-04-10 | criteria provided, single submitter | clinical testing | The variant is listed in gnomAD with a frequency of 0.0031867% (1/31380) and listed in the dbSNP under rs1241586108 as of April 2024. The variant is predicted to have a splicing impact. The ACMG criteria are PVS1_strong and PM2. Segregation within the familiy showed that both affected individuals carried the variant. |