Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150751 | SCV000198203 | likely benign | not specified | 2014-05-28 | criteria provided, single submitter | clinical testing | Leu10Leu in exon 1 of GLA: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence. |
Labcorp Genetics |
RCV002514898 | SCV003241814 | likely benign | Fabry disease | 2023-02-10 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486667 | SCV004240698 | likely benign | Cardiomyopathy | 2023-03-21 | criteria provided, single submitter | clinical testing |