Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000271980 | SCV000333077 | uncertain significance | not provided | 2015-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000271980 | SCV001885709 | uncertain significance | not provided | 2023-05-24 | 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. |