Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698100 | SCV000726807 | uncertain significance | not provided | 2022-01-10 | criteria provided, single submitter | clinical testing | Nucleotide substitution is not conserved across species; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001049760 | SCV001213829 | likely benign | Tumor predisposition syndrome 3 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002268217 | SCV002550298 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |