Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001711506 | SCV000249948 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
| Ambry Genetics | RCV002315568 | SCV000738730 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-03-14 | criteria provided, single submitter | clinical testing | The p.V1499L variant (also known as c.4495G>T), located in coding exon 54 of the COL5A2 gene, results from a G to T substitution at nucleotide position 4495. The valine at codon 1499 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Center for Human Genetics, |
RCV000680511 | SCV000807896 | likely benign | Connective tissue disorder | 2018-06-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002229084 | SCV000818682 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-10-24 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001137056 | SCV001296950 | likely benign | Ehlers-Danlos syndrome, classic type, 2 | 2018-01-13 | 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. |
| Genome Diagnostics Laboratory, |
RCV002277495 | SCV002565849 | uncertain significance | Ehlers-Danlos syndrome | 2019-03-18 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330561 | SCV004038898 | likely benign | not specified | 2023-08-10 | criteria provided, single submitter | clinical testing |