Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000607835 | SCV000713658 | likely benign | not specified | 2017-09-04 | criteria provided, single submitter | clinical testing | p.Ala3794Ala in exon 83 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 2/23972 African c hromosomes and 1/126440 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs760519786). |
Color Diagnostics, |
RCV001190501 | SCV001358003 | likely benign | Cardiomyopathy | 2019-10-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001400521 | SCV001602325 | likely benign | Catecholaminergic polymorphic ventricular tachycardia | 2021-10-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003326471 | SCV004033022 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | RYR2: BP4, BP7 |