Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000880532 | SCV001023633 | benign | not provided | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000880532 | SCV005307069 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003955809 | SCV004775029 | likely benign | SOX18-related disorder | 2021-02-23 | 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). |