Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000605592 | SCV000725117 | likely benign | not specified | 2017-11-22 | 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, |
RCV001001167 | SCV001158318 | likely benign | Ehlers-Danlos syndrome, classic type, 2 | 2019-04-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003758884 | SCV004524189 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-19 | criteria provided, single submitter | clinical testing |