Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001367831 | SCV001564197 | likely benign | Dilated cardiomyopathy 1DD | 2024-12-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002413879 | SCV002723231 | uncertain significance | Cardiovascular phenotype | 2024-02-01 | criteria provided, single submitter | clinical testing | The p.T356P variant (also known as c.1066A>C), located in coding exon 2 of the RBM20 gene, results from an A to C substitution at nucleotide position 1066. The threonine at codon 356 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Fulgent Genetics, |
RCV001367831 | SCV002780255 | uncertain significance | Dilated cardiomyopathy 1DD | 2024-03-19 | criteria provided, single submitter | clinical testing |