Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215577 | SCV000269373 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Thr215Met in exon 4 of MYOM1: This variant is not expected to have clinical sign ificance because it has been identified in 13.0% (531/4076) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs2230165). |
Ambry Genetics | RCV000620785 | SCV000739804 | benign | Cardiovascular phenotype | 2012-08-09 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Invitae | RCV001514698 | SCV001722604 | benign | Hypertrophic cardiomyopathy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001610529 | SCV001838444 | benign | not provided | 2019-02-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977591 | SCV004787947 | benign | MYOM1-related condition | 2019-11-27 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |