Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000080205 | SCV000112100 | benign | not specified | 2013-01-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000080205 | SCV000309628 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000408005 | SCV000636666 | benign | Kabuki syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000659741 | SCV000781590 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000858851 | SCV001144522 | benign | not provided | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000858851 | SCV001844036 | benign | not provided | 2020-01-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28933623) |
Ce |
RCV000858851 | SCV004130772 | benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | KMT2D: PP2, BS1, BS2 |
ITMI | RCV000080205 | SCV000085584 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |