Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036312 | SCV000059964 | benign | not specified | 2015-08-27 | criteria provided, single submitter | clinical testing | c.68-5_68-3delinsTT in intron 4 of TNNT2: This variant is not expected to have clinical signficance because it has been identified in 4.7% (409/8652) of East A sian chromosomes including 13 homozygous individuals by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org/, pers. comm.; dbSNP rs540630390 and rs200153031). Furthermore, in vitro functional studies suggest that the c.68 -5_68-3delinsTT variant does not impact protein function (Crehalet 2012). |
Gene |
RCV000159269 | SCV000209215 | likely benign | Cardiomyopathy | 2014-03-21 | criteria provided, single submitter | clinical testing | The variant is found in HCM panel(s). |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000036312 | SCV000740433 | likely benign | not specified | 2017-04-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002482972 | SCV002797896 | likely benign | Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445095 | SCV004173846 | likely benign | Dilated cardiomyopathy 1D | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445096 | SCV004173847 | likely benign | Cardiomyopathy, familial restrictive, 3 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445094 | SCV004173848 | likely benign | Hypertrophic cardiomyopathy 2 | 2023-04-11 | criteria provided, single submitter | clinical testing |