Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003754719 | SCV004450722 | benign | Kabuki syndrome | 2023-08-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004539065 | SCV004711977 | likely benign | KMT2D-related disorder | 2023-12-27 | 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). |