Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146208 | SCV000193444 | uncertain significance | Kabuki syndrome 1 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001449194 | SCV001652303 | likely benign | Kabuki syndrome | 2018-11-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004532656 | SCV004712133 | likely benign | KMT2D-related disorder | 2021-08-16 | 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). |