Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000155805 | SCV000171017 | benign | not specified | 2014-04-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Laboratory for Molecular Medicine, |
RCV000155805 | SCV000205516 | benign | not specified | 2014-10-02 | criteria provided, single submitter | clinical testing | p.Asn547Asn in exon 7 of PKP2: This variant is not expected to have clinical sig nificance because it has been identified in 1.0% (6/572) of East Asian chromosom es by the 1000 Genomes Project (dbSNP rs143782040). |
| Labcorp Genetics |
RCV000226692 | SCV000288596 | benign | Arrhythmogenic right ventricular dysplasia 9 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000618913 | SCV000735904 | likely benign | Cardiovascular phenotype | 2016-04-25 | 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. |
| Color Diagnostics, |
RCV000771252 | SCV000903354 | benign | Cardiomyopathy | 2018-07-09 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000226692 | SCV001269792 | likely benign | Arrhythmogenic right ventricular dysplasia 9 | 2018-02-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
| All of Us Research Program, |
RCV003997448 | SCV004846004 | benign | Arrhythmogenic right ventricular cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing |