Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000250714 | SCV000317989 | likely benign | Cardiovascular phenotype | 2016-03-29 | 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. |
Invitae | RCV000871076 | SCV001012672 | benign | Dilated cardiomyopathy 1DD | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV001823720 | SCV002073420 | likely benign | not specified | 2022-01-16 | criteria provided, single submitter | clinical testing | This synonymous variant has an entry in ClinVar (263443) NM_001134363.3 (RBM20): c.1455A>G (p.Ser485=) and has occurred in GnomAD with a total MAF of 0.0121% and highest MAF of 0.0864% in the Finnish population. This position is not conserved. In silico splicing algorithm was unavailable, however it is not predicted to impact splicing due to its distance from the splice site. No functional studies were performed to confirm this prediction. The variant has not occurred in literature associated with disease. Considering the above evidence, this variant has been classified as Likely Benign. |
Clinical Genetics, |
RCV001700024 | SCV001924534 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001700024 | SCV001930661 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001700024 | SCV001971856 | uncertain significance | not provided | no assertion criteria provided | clinical testing |