Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000908620 | SCV001053395 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000908620 | SCV002008518 | likely benign | not provided | 2020-04-24 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279626 | SCV002565051 | benign | Osteogenesis imperfecta | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902843 | SCV004720781 | benign | SPARC-related disorder | 2019-06-19 | no assertion criteria provided | 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). |