Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000518798 | SCV000614995 | benign | not provided | 2022-02-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001083131 | SCV001002886 | benign | Spastic paraplegia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001112021 | SCV001269635 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Genome- |
RCV001112021 | SCV001806294 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000518798 | SCV002008863 | uncertain significance | not provided | 2021-11-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23280630, 19779133) |