Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001663494 | SCV001880291 | likely benign | not specified | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003130542 | SCV003809257 | uncertain significance | not provided | 2019-10-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004542064 | SCV004778877 | likely benign | HSPG2-related disorder | 2023-03-21 | no assertion criteria provided | 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). |