Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001148572 | SCV001309478 | benign | Autosomal dominant cerebellar ataxia | 2018-03-26 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| Athena Diagnostics | RCV001288655 | SCV001475930 | benign | not specified | 2020-08-25 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002070802 | SCV002487061 | benign | not provided | 2023-09-19 | criteria provided, single submitter | clinical testing | |
| Ce |
RCV002070802 | SCV004146802 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | ITPR1: BP7, BS2 |
| Gene |
RCV002070802 | SCV005080856 | uncertain significance | not provided | 2023-12-08 | criteria provided, single submitter | clinical testing | In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |