Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001085352 | SCV000555325 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2025-01-30 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000595403 | SCV000708841 | uncertain significance | not provided | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000595403 | SCV000970539 | likely benign | not provided | 2020-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429571 | SCV002728785 | benign | Cardiovascular phenotype | 2020-03-17 | 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, |
RCV000595403 | SCV003822312 | uncertain significance | not provided | 2022-06-14 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV005404598 | SCV006069246 | likely benign | not specified | 2025-04-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004735548 | SCV005343799 | likely benign | TTN-related disorder | 2024-06-20 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |