Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827752 | SCV000969412 | likely benign | not provided | 2018-03-28 | 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. |
Invitae | RCV001078599 | SCV001098235 | likely benign | Congenital contractural arachnodactyly | 2021-06-21 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279553 | SCV002565921 | uncertain significance | Ehlers-Danlos syndrome | 2020-02-01 | criteria provided, single submitter | clinical testing |