Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000416202 | SCV000493532 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | GALC: BP4, BP7 |
Fulgent Genetics, |
RCV000765183 | SCV000896418 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000416202 | SCV001820667 | uncertain significance | not provided | 2021-03-11 | 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, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown |
Natera, |
RCV000765183 | SCV002093672 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2019-11-11 | no assertion criteria provided | clinical testing |