Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000971117 | SCV001118737 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000971117 | SCV001988212 | uncertain significance | not provided | 2022-10-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 28459997) |
Ce |
RCV000971117 | SCV002585231 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | POLR3A: BP4 |