Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001469766 | SCV001673854 | likely benign | Treacher Collins syndrome 1 | 2022-02-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003442132 | SCV004169166 | uncertain significance | not provided | 2023-04-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |