Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268758 | SCV001447922 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
3billion | RCV000239655 | SCV002318774 | pathogenic | Autosomal recessive spinocerebellar ataxia 17 | 2022-03-22 | criteria provided, single submitter | clinical testing | Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. This variant has been reported as pathogenic (ClinVar ID: VCV000253212, PMID:27016154), It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Ce |
RCV001268758 | SCV002544455 | pathogenic | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | CWF19L1: PVS1, PM2, PM3 |
OMIM | RCV000239655 | SCV000298006 | pathogenic | Autosomal recessive spinocerebellar ataxia 17 | 2016-08-24 | no assertion criteria provided | literature only |