Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035908 | SCV000059559 | likely benign | not specified | 2009-10-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000035908 | SCV000513807 | likely benign | not specified | 2015-10-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000459376 | SCV000557948 | likely benign | Hypertrophic cardiomyopathy | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001182228 | SCV001347613 | likely benign | Cardiomyopathy | 2019-09-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003372605 | SCV004087406 | likely benign | Cardiovascular phenotype | 2023-09-07 | 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. |