Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036395 | SCV000060050 | likely benign | not specified | 2008-03-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000036395 | SCV000170566 | benign | not specified | 2014-01-22 | 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 | RCV000467703 | SCV000560090 | likely benign | Hypertrophic cardiomyopathy 10 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170436 | SCV001333016 | likely benign | Cardiomyopathy | 2018-02-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001170436 | SCV001341202 | likely benign | Cardiomyopathy | 2019-05-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000036395 | SCV001362508 | benign | not specified | 2019-10-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002292460 | SCV002585421 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | MYL2: BP4, BP7 |
Ambry Genetics | RCV002453304 | SCV002614763 | likely benign | Cardiovascular phenotype | 2019-02-11 | 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. |