Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001143319 | SCV001303834 | benign | Ehlers-Danlos syndrome, type 4 | 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. |
| Color Diagnostics, |
RCV001183793 | SCV001349618 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-10-14 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001143319 | SCV003465628 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change affects codon 449 of the COL3A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL3A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs755731385, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 899074). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| All of Us Research Program, |
RCV001143319 | SCV004829328 | likely benign | Ehlers-Danlos syndrome, type 4 | 2024-07-20 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004782657 | SCV005395533 | uncertain significance | not specified | 2024-09-09 | criteria provided, single submitter | clinical testing |