Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037087 | SCV001200484 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-09-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181597 | SCV001346774 | uncertain significance | Cardiomyopathy | 2020-01-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160222 | SCV003855688 | uncertain significance | Cardiovascular phenotype | 2022-11-21 | criteria provided, single submitter | clinical testing | The p.T61M variant (also known as c.182C>T), located in coding exon 2 of the DSP gene, results from a C to T substitution at nucleotide position 182. The threonine at codon 61 is replaced by methionine, an amino acid with 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. |