Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088474 | SCV000554984 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000594898 | SCV000704571 | uncertain significance | not provided | 2016-12-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000594898 | SCV001146536 | likely benign | not provided | 2018-11-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000594898 | SCV001751809 | likely benign | not provided | 2020-03-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000594898 | SCV002048545 | uncertain significance | not provided | 2021-01-20 | criteria provided, single submitter | clinical testing | The TTN c.93215G>A; p.Arg31072His variant (rs141817409; ClinVar Variation ID: 413039) is rare in the general population (<0.2% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Arg31072His variant cannot be determined with certainty. |
Ambry Genetics | RCV002365681 | SCV002663434 | likely benign | Cardiovascular phenotype | 2020-01-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Revvity Omics, |
RCV000594898 | SCV003826722 | uncertain significance | not provided | 2023-01-23 | criteria provided, single submitter | clinical testing |