Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001400138 | SCV001601941 | likely benign | DiGeorge syndrome | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000983828 | SCV001872910 | uncertain significance | not provided | 2023-12-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV003307785 | SCV003993319 | uncertain significance | Cardiovascular phenotype | 2023-05-30 | criteria provided, single submitter | clinical testing | The p.E409G variant (also known as c.1226A>G), located in coding exon 8 of the TBX1 gene, results from an A to G substitution at nucleotide position 1226. The glutamic acid at codon 409 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |