Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000465247 | SCV000557800 | likely benign | Primary dilated cardiomyopathy | 2024-01-22 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001696850 | SCV000724965 | likely benign | not provided | 2021-01-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000619416 | SCV000736723 | likely benign | Cardiovascular phenotype | 2018-11-01 | 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. |
| Clinical Genomics Laboratory, |
RCV001696850 | SCV005685278 | uncertain significance | not provided | 2024-05-30 | criteria provided, single submitter | clinical testing | A TXNRD2 c.505G>A (p.Gly169Ser) variant was identified. This variant, to our knowledge, has not been reported in the medical literature and is observed on 110/280,980 alleles in the general population (gnomAD v.2.1.1). This variant has been reported in the ClinVar database as a likely benign variant by multiple submitters (ClinVar ID: 414277). Computational predictors suggest that the variant does not impact TXNRD function. |
| Prevention |
RCV003915295 | SCV004731053 | likely benign | TXNRD2-related disorder | 2023-11-13 | 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). |