Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725838 | SCV000339845 | uncertain significance | not provided | 2016-02-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000346698 | SCV000594526 | benign | not specified | 2017-05-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001055403 | SCV001219791 | benign | Kleefstra syndrome 1 | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725838 | SCV001805540 | likely benign | not provided | 2019-10-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725838 | SCV002564090 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | EHMT1: BP4, BS2 |
Centre de Biologie Pathologie Génétique, |
RCV001252236 | SCV001427987 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |