Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000182675 | SCV000235054 | likely benign | not provided | 2023-08-25 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Genomic Diagnostic Laboratory, |
RCV000202980 | SCV000257747 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2015-06-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000202980 | SCV000828023 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777719 | SCV000913663 | uncertain significance | Cardiomyopathy | 2023-04-10 | criteria provided, single submitter | clinical testing | This variant is located in the RYR2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 21/272778 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV001256935 | SCV001433456 | uncertain significance | Arrhythmogenic right ventricular dysplasia 1 | 2019-10-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453657 | SCV002613773 | uncertain significance | Cardiovascular phenotype | 2023-02-13 | criteria provided, single submitter | clinical testing | The p.V382M variant (also known as c.1144G>A), located in coding exon 13 of the RYR2 gene, results from a G to A substitution at nucleotide position 1144. The valine at codon 382 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
Diagnostic Laboratory, |
RCV000182675 | SCV001743349 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000182675 | SCV001925532 | uncertain significance | not provided | no assertion criteria provided | clinical testing |