Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000904438 | SCV001048954 | likely benign | not provided | 2023-06-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000904438 | SCV001154903 | likely benign | not provided | 2021-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000904438 | SCV001998858 | uncertain significance | not provided | 2020-01-15 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, 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. |