Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000693026 | SCV000820879 | likely benign | Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002458239 | SCV002617495 | likely benign | Cardiovascular phenotype | 2019-04-02 | 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. |
Gene |
RCV003442027 | SCV004170736 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | Reported in 1/427 control alleles (PMID: 24510615); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24510615) |
Color Diagnostics, |
RCV003532237 | SCV004359941 | likely benign | Cardiomyopathy | 2020-03-30 | criteria provided, single submitter | clinical testing |