Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220145 | SCV000269360 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 3576-5C>T in intron 23 of MYOM1: This variant is not expected to have clinical s ignificance because it has been identified in 44.7% (3679/8230) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs7232329). |
Ambry Genetics | RCV000620247 | SCV000739801 | benign | Cardiovascular phenotype | 2012-07-11 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Gene |
RCV000837583 | SCV000979439 | benign | not provided | 2018-06-13 | 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 | RCV001514548 | SCV001722416 | benign | Hypertrophic cardiomyopathy | 2024-02-01 | criteria provided, single submitter | clinical testing |