Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000391698 | SCV001397529 | benign | Glanzmann thrombasthenia | 2020-06-04 | reviewed by expert panel | curation | The NM_000419.5:c.1945G>T (p.Val649Leu) variant occurs at an allele frequency of 0.01773 in the gnomAD African population and is predicted by REVEL score of 0.035 to have no impact. In summary, the variant is classified as benign. GT-specific criteria applied: BA1 and BP4. |
Illumina Laboratory Services, |
RCV000391698 | SCV000403369 | benign | Glanzmann thrombasthenia | 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. |
Invitae | RCV000391698 | SCV001001704 | benign | Glanzmann thrombasthenia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820970 | SCV002072036 | benign | not specified | 2020-12-02 | criteria provided, single submitter | clinical testing |