Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208025 | SCV000263871 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2015-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001228122 | SCV001400507 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-06-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426975 | SCV002744030 | uncertain significance | Cardiovascular phenotype | 2022-07-13 | criteria provided, single submitter | clinical testing | The p.R866H variant (also known as c.2597G>A), located in coding exon 18 of the DSP gene, results from a G to A substitution at nucleotide position 2597. The arginine at codon 866 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in a congenital heart defect (CHD) cohort; however, clinical details were limited (Guelly C et al. PeerJ, 2021 Jan;9:e10711). This amino acid position is highly conserved in available vertebrate species. 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. |
Ce |
RCV003437008 | SCV004163048 | uncertain significance | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing |