Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003130237 | SCV003808557 | uncertain significance | not provided | 2019-12-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001278165 | SCV004041290 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2023-05-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001278165 | SCV001465161 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2020-04-18 | no assertion criteria provided | clinical testing |