Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001409895 | SCV001611929 | likely benign | Myofibrillar myopathy 4 | 2023-03-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002368282 | SCV002656884 | uncertain significance | Cardiovascular phenotype | 2022-03-16 | criteria provided, single submitter | clinical testing | The c.645G>A variant (also known as p.Q215Q), located in coding exon 4 of the LDB3 gene, results from a G to A substitution at nucleotide position 645. This nucleotide substitution does not change the glutamine at codon 215. This nucleotide position is not 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. |