Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036616 | SCV000060271 | likely benign | not specified | 2008-03-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001703874 | SCV000522982 | likely benign | not provided | 2019-10-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30297972) |
Invitae | RCV000554300 | SCV000646911 | likely benign | Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001184756 | SCV001350816 | likely benign | Cardiomyopathy | 2018-11-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001703874 | SCV002496978 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | TNNT2: BP4, BP7 |
Ambry Genetics | RCV002381299 | SCV002670317 | likely benign | Cardiovascular phenotype | 2023-06-01 | 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. |
Genome- |
RCV003450715 | SCV004181227 | likely benign | Dilated cardiomyopathy 1D | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450716 | SCV004181229 | likely benign | Cardiomyopathy, familial restrictive, 3 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450714 | SCV004181230 | likely benign | Hypertrophic cardiomyopathy 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004541102 | SCV004776877 | likely benign | TNNT2-related disorder | 2020-09-23 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
All of Us Research Program, |
RCV001184756 | SCV004815261 | likely benign | Cardiomyopathy | 2023-12-01 | criteria provided, single submitter | clinical testing |