Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659732 | SCV000781580 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001459987 | SCV001663846 | likely benign | Kabuki syndrome | 2021-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000911213 | SCV001988357 | benign | not provided | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000911213 | SCV004130789 | benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | KMT2D: BS1, BS2 |
Prevention |
RCV004544919 | SCV004787389 | likely benign | KMT2D-related disorder | 2019-08-08 | 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). |