Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000762470 | SCV000892792 | likely benign | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000762470 | SCV001040598 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001002170 | SCV001160030 | likely benign | Bone fragility with contractures, arterial rupture, and deafness | 2018-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947965 | SCV004764316 | benign | PLOD3-related condition | 2020-02-18 | 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). |