Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041693 | SCV000065389 | benign | not specified | 2008-02-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000041693 | SCV000169759 | benign | not specified | 2011-08-18 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV001513474 | SCV001156867 | benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001513474 | SCV001721093 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001532784 | SCV001748499 | benign | Usher syndrome type 2A | 2021-07-01 | criteria provided, single submitter | clinical testing |