Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156340 | SCV000206058 | likely benign | not specified | 2014-02-21 | criteria provided, single submitter | clinical testing | Ser44Ser in exon 5 of TNNI3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Ser44Ser in exon 4 of TNNI3 (allele frequency = n/a) |
Gene |
RCV000156340 | SCV000514919 | likely benign | not specified | 2017-10-19 | 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. |
Color Diagnostics, |
RCV000771902 | SCV000904666 | likely benign | Cardiomyopathy | 2018-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000868030 | SCV001009315 | likely benign | Hypertrophic cardiomyopathy | 2024-01-24 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000771902 | SCV002042727 | likely benign | Cardiomyopathy | 2021-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381500 | SCV002692912 | likely benign | Cardiovascular phenotype | 2022-09-20 | 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. |
Fulgent Genetics, |
RCV002492592 | SCV002802665 | likely benign | Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7 | 2021-09-01 | criteria provided, single submitter | clinical testing |