Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ce |
RCV000963944 | SCV007116715 | likely benign | not provided | 2025-10-01 | criteria provided, single submitter | clinical testing | SPTBN2: BP4 |
| Athena Diagnostics | RCV001289185 | SCV001476835 | benign | not specified | 2024-01-24 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001108824 | SCV001266107 | likely benign | Autosomal recessive spinocerebellar ataxia 14 | 2018-01-12 | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Labcorp Genetics |
RCV000963944 | SCV001111121 | benign | not provided | 2026-01-15 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000404085 | SCV000373418 | benign | Spinocerebellar ataxia type 5 | 2018-01-12 | 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. |
| Prevention |
RCV003910123 | SCV004729912 | likely benign | SPTBN2-related disorder | 2020-02-17 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |