Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197227 | SCV000250653 | benign | not specified | 2014-08-08 | 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, |
RCV001001519 | SCV001158830 | benign | Shprintzen-Goldberg syndrome | 2020-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001001519 | SCV002408228 | benign | Shprintzen-Goldberg syndrome | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000197227 | SCV004029463 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |