Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000168911 | SCV000616802 | benign | not provided | 2020-12-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#188641; Landrum et al., 2016) |
Ambry Genetics | RCV000617588 | SCV000736536 | likely benign | Cardiovascular phenotype | 2016-01-22 | 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. |
Color Diagnostics, |
RCV001186297 | SCV001352678 | likely benign | Cardiomyopathy | 2019-02-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001426472 | SCV001629125 | likely benign | Hypertrophic cardiomyopathy | 2023-10-18 | criteria provided, single submitter | clinical testing |