Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001259 | SCV001158430 | benign | not specified | 2019-05-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002068769 | SCV002436901 | likely benign | not provided | 2021-11-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002068769 | SCV002568472 | uncertain significance | not provided | 2022-02-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |