Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217963 | SCV000271622 | uncertain significance | not specified | 2017-08-03 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Thr219Ile var iant in DES has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.17% (43/24036) of African chromosomes by the Genom e Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs144901 249). Computational prediction tools and conservation analysis do not provide st rong support for or against an impact to the protein. In summary, while the clin ical significance of the p.Thr219Ile variant is uncertain, its frequency suggest s that it is more likely to be benign. |
Labcorp Genetics |
RCV001084978 | SCV000654177 | likely benign | Desmin-related myofibrillar myopathy | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726722 | SCV000702434 | uncertain significance | not provided | 2016-10-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770168 | SCV000901594 | uncertain significance | Cardiomyopathy | 2016-10-24 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000726722 | SCV001713263 | uncertain significance | not provided | 2019-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726722 | SCV001813765 | uncertain significance | not provided | 2024-06-12 | criteria provided, single submitter | clinical testing | Reported in patients with myopathy and hypertrophic cardiomyopathy who also harbored additional variants in other myopathy- and cardiomyopathy-related genes (PMID: 30323756, 32746448); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26807690, 32746448, 30323756) |
Ambry Genetics | RCV002363072 | SCV002663509 | benign | Cardiovascular phenotype | 2022-05-23 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Revvity Omics, |
RCV000726722 | SCV003829017 | uncertain significance | not provided | 2021-07-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000217963 | SCV005393993 | likely benign | not specified | 2024-09-04 | criteria provided, single submitter | clinical testing |