Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434419 | SCV000535388 | likely benign | not specified | 2016-12-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002393054 | SCV002701406 | uncertain significance | Cardiovascular phenotype | 2022-03-11 | criteria provided, single submitter | clinical testing | The c.1437G>C variant (also known as p.G479G), located in coding exon 9 of the LDB3 gene, results from a G to C substitution at nucleotide position 1437. This nucleotide substitution does not change the glycine at codon 479. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |