Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197655 | SCV000250600 | likely benign | not provided | 2021-04-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315604 | SCV000739163 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-05-09 | criteria provided, single submitter | clinical testing | The p.S347G variant (also known as c.1039A>G), located in coding exon 7 of the MED12 gene, results from an A to G substitution at nucleotide position 1039. The serine at codon 347 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and glycine 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. |
Fulgent Genetics, |
RCV000766102 | SCV000897581 | uncertain significance | X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003595889 | SCV001728170 | benign | FG syndrome | 2023-12-09 | criteria provided, single submitter | clinical testing |