Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313377 | SCV000739135 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-10-26 | criteria provided, single submitter | clinical testing | The p.P1751L variant (also known as c.5252C>T), located in coding exon 37 of the MED12 gene, results from a C to T substitution at nucleotide position 5252. The proline at codon 1751 is replaced by leucine, an amino acid with similar properties. 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. |
Ambry Genetics | RCV000624172 | SCV000741070 | uncertain significance | Inborn genetic diseases | 2015-10-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003767809 | SCV001205755 | likely benign | FG syndrome | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003133406 | SCV003810880 | uncertain significance | not provided | 2022-03-13 | criteria provided, single submitter | clinical testing |