Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814062 | SCV000954458 | likely benign | Glycogen storage disease, type II | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002259372 | SCV002538883 | uncertain significance | not provided | 2021-12-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV000814062 | SCV002793739 | uncertain significance | Glycogen storage disease, type II | 2021-07-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV002259372 | SCV003834104 | uncertain significance | not provided | 2021-05-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938174 | SCV004763840 | uncertain significance | GAA-related condition | 2024-02-07 | criteria provided, single submitter | clinical testing | The GAA c.1232G>A variant is predicted to result in the amino acid substitution p.Arg411Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.049% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV000814062 | SCV001455607 | uncertain significance | Glycogen storage disease, type II | 2020-09-16 | no assertion criteria provided | clinical testing |