Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV002468424 | SCV002764251 | uncertain significance | Maffucci syndrome | criteria provided, single submitter | research | ||
Prevention |
RCV003916474 | SCV004733496 | likely benign | KDM4C-related disorder | 2022-04-15 | criteria provided, single submitter | 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). |