Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003525945 | SCV000825620 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-07-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002493209 | SCV002780998 | uncertain significance | Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 2021-10-20 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003227834 | SCV003924148 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | RYR2 NM_001035.2 exon 31 p.Gln1293Glu (c.3877C>G): This variant has not been reported in the literature but is present in 2/23972 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |