Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000793738 | SCV000933106 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-03-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002422686 | SCV002678941 | uncertain significance | Cardiovascular phenotype | 2022-08-27 | criteria provided, single submitter | clinical testing | The p.S2708L variant (also known as c.8123C>T), located in coding exon 24 of the DSP gene, results from a C to T substitution at nucleotide position 8123. The serine at codon 2708 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |