Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659688 | SCV000781534 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003588576 | SCV004300216 | benign | Kabuki syndrome | 2023-12-15 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121394 | SCV000085579 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |