Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000610246 | SCV000714073 | likely benign | not specified | 2018-01-26 | 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, |
RCV001001505 | SCV001158808 | benign | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2020-03-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001001505 | SCV002437361 | benign | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000610246 | SCV004038885 | likely benign | not specified | 2023-08-10 | criteria provided, single submitter | clinical testing |