Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000170745 | SCV000223298 | uncertain significance | not provided | 2019-11-15 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance and a likely benign variant (ClinVar Variant ID 190611; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Invitae | RCV000471623 | SCV000562867 | likely benign | Long QT syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621118 | SCV000737457 | likely benign | Cardiovascular phenotype | 2019-01-14 | 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. |
Prevention |
RCV003947452 | SCV004757654 | uncertain significance | CACNA1C-related disorder | 2024-02-14 | criteria provided, single submitter | clinical testing | The CACNA1C c.1783G>A variant is predicted to result in the amino acid substitution p.Val595Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.088% of alleles in individuals of European (Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |