Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002046281 | SCV002317026 | benign | Kabuki syndrome | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003134367 | SCV003812649 | uncertain significance | not provided | 2022-06-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004538748 | SCV004712924 | likely benign | KMT2D-related disorder | 2021-12-27 | 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). |