Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001065790 | SCV001230774 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2022-09-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 859632). This variant has not been reported in the literature in individuals affected with GALC-related conditions. This variant, c.401_403del, results in the deletion of 1 amino acid(s) of the GALC protein (p.Met134del), but otherwise preserves the integrity of the reading frame. |
Revvity Omics, |
RCV003132203 | SCV003816308 | uncertain significance | not provided | 2023-05-29 | criteria provided, single submitter | clinical testing |