Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002327768 | SCV002627011 | uncertain significance | Cardiovascular phenotype | 2021-12-16 | criteria provided, single submitter | clinical testing | The p.P140A variant (also known as c.418C>G), located in coding exon 4 of the LDB3 gene, results from a C to G substitution at nucleotide position 418. The proline at codon 140 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |
Invitae | RCV003102535 | SCV003509725 | likely benign | Myofibrillar myopathy 4 | 2022-03-04 | criteria provided, single submitter | clinical testing |