Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001678328 | SCV001895720 | benign | not provided | 2020-06-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003106248 | SCV003779963 | benign | KBG syndrome | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003921326 | SCV004741176 | likely benign | ANKRD11-related disorder | 2021-04-15 | 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). |