Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000769338 | SCV000900719 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000769338 | SCV002711887 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-11-19 | criteria provided, single submitter | clinical testing | The p.V592A variant (also known as c.1775T>C), located in coding exon 10 of the MYLK gene, results from a T to C substitution at nucleotide position 1775. The valine at codon 592 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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. |
Fulgent Genetics, |
RCV002487568 | SCV002790427 | uncertain significance | Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 2021-09-07 | criteria provided, single submitter | clinical testing |