Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000243879 | SCV000318872 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-04-04 | criteria provided, single submitter | clinical testing | The p.I1304L variant (also known as c.3910A>C), located in coding exon 28 of the MYH11 gene, results from an A to C substitution at nucleotide position 3910. The isoleucine at codon 1304 is replaced by leucine, an amino acid with highly similar properties, and is located in the coiled coil domain. This amino acid position is highly conserved in available 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. |
Illumina Laboratory Services, |
RCV000243879 | SCV000395295 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086354 | SCV000641036 | likely benign | Aortic aneurysm, familial thoracic 4 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000243879 | SCV000904567 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000533441 | SCV001794378 | likely benign | not provided | 2020-08-28 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000533441 | SCV001800015 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000533441 | SCV001965147 | uncertain significance | not provided | no assertion criteria provided | clinical testing |