Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001456200 | SCV001659977 | likely benign | Galactosylceramide beta-galactosidase deficiency | 2023-09-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002276740 | SCV002567605 | uncertain significance | not provided | 2022-02-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003900567 | SCV004714304 | likely benign | GALC-related disorder | 2021-10-08 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |