Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000994676 | SCV001148352 | likely pathogenic | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000994676 | SCV001721961 | benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000994676 | SCV001764819 | uncertain significance | not provided | 2022-12-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28378289, 22487062, 25086671) |