Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000466919 | SCV000552917 | likely benign | Dilated cardiomyopathy 1DD | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Laboratory for Molecular Medicine, |
RCV000825223 | SCV000966505 | likely benign | not specified | 2018-07-19 | criteria provided, single submitter | clinical testing | The p.Ser258Leu variant in RBM20 is classified as likley benign because it has b een identified in 0.08% (13/16348) of African chromosomes by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org). Computational predicti on tools and conservation analysis suggest that the p.Ser836Phe variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4. |
| Ambry Genetics | RCV002402293 | SCV002672137 | likely benign | Cardiovascular phenotype | 2023-03-30 | 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. |
| Fulgent Genetics, |
RCV000466919 | SCV002810222 | likely benign | Dilated cardiomyopathy 1DD | 2021-09-01 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV003233643 | SCV003930852 | uncertain significance | not provided | 2023-06-12 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |