Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842231 | SCV000984233 | likely benign | not provided | 2018-04-19 | 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 | RCV001276587 | SCV001646017 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892771 | SCV004712728 | likely benign | ADAMTS2-related condition | 2021-02-01 | 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). |
Natera, |
RCV001276587 | SCV001462997 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2020-06-13 | no assertion criteria provided | clinical testing |