Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214625 | SCV000269370 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Thr180Ile in exon 4 of MYOM1: This variant is not expected to have clinical sign ificance because it has been identified in 1.4% (56/3988) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs61735396). |
Invitae | RCV000457291 | SCV000561229 | benign | Hypertrophic cardiomyopathy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621949 | SCV000739825 | benign | Cardiovascular phenotype | 2013-11-21 | 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 |