Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000401509 | SCV001397543 | benign | Glanzmann thrombasthenia | 2019-09-18 | reviewed by expert panel | curation | The Lys709= synonymous variant occurs at an allele frequency in gnomAD of 0.001729 with a MAF of 0.01699 (424/24,960 alleles) in the African population. This is above the >0.0024 threshold. This variant meets criteria to be classified as Benign by the ClinGen Platelet Disorders VCEP. GT-specific criteria met: BA1. |
Illumina Laboratory Services, |
RCV000401509 | SCV000403366 | 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 | RCV000401509 | SCV001001238 | benign | Glanzmann thrombasthenia | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940275 | SCV004752830 | benign | ITGA2B-related condition | 2019-03-01 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |