Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000612781 | SCV000722013 | likely benign | not specified | 2017-08-14 | 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 | RCV000902404 | SCV001046825 | likely benign | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945499 | SCV004758799 | likely benign | PLOD1-related condition | 2019-11-27 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |