Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000177545 | SCV000193465 | likely benign | not specified | 2017-06-16 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000177545 | SCV000229430 | likely benign | not specified | 2015-03-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000177545 | SCV000309627 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Center for Human Genetics, |
RCV000659740 | SCV000781589 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000289783 | SCV001012526 | likely benign | Kabuki syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705946 | SCV001868883 | benign | not provided | 2019-10-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29627316, 30459467, 30107592) |
Ce |
RCV001705946 | SCV004130773 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | KMT2D: BS1 |