Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192626 | SCV000248489 | uncertain significance | not specified | 2015-07-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001287841 | SCV001474578 | likely benign | Microcephalic osteodysplastic primordial dwarfism type II | 2019-10-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430747 | SCV004152040 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | PCNT: BP4, BP7 |
Invitae | RCV003430747 | SCV004272082 | likely benign | not provided | 2023-12-29 | criteria provided, single submitter | clinical testing |