Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038959 | SCV000062637 | likely benign | not specified | 2015-04-15 | criteria provided, single submitter | clinical testing | p.Asn299Asn in exon 7 of PRKAG2: 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 12/15416 South As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs201876556). |
Gene |
RCV001703889 | SCV000528173 | likely benign | not provided | 2019-03-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001177610 | SCV001341849 | likely benign | Cardiomyopathy | 2018-12-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001462989 | SCV001666918 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371839 | SCV002683689 | likely benign | Cardiovascular phenotype | 2022-07-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
All of Us Research Program, |
RCV003996427 | SCV004842240 | likely benign | Hypertrophic cardiomyopathy | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001703889 | SCV005219869 | likely benign | not provided | criteria provided, single submitter | not provided |