Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539080 | SCV000654699 | benign | Ehlers-Danlos syndrome, musculocontractural type 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001618732 | SCV000714893 | benign | not provided | 2018-04-05 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279359 | SCV002565866 | benign | Ehlers-Danlos syndrome | 2022-03-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980017 | SCV004798102 | benign | DSE-related condition | 2019-05-02 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Gene |
RCV001618732 | SCV001843180 | benign | not provided | 2017-05-31 | flagged submission | clinical testing |