Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000121438 | SCV000193399 | likely benign | not specified | 2014-03-07 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000659812 | SCV000781671 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001514713 | SCV001722624 | benign | Kabuki syndrome | 2021-11-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000872102 | SCV001864376 | benign | not provided | 2021-04-20 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121438 | SCV000085632 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |