Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220576 | SCV000269343 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Glu600Val in exon 12 of MYOM1: This variant is not expected to have clinical sig nificance because it has been identified in 4.9% (184/3786) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs9807556). |
Invitae | RCV000470399 | SCV000561225 | benign | Hypertrophic cardiomyopathy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618686 | SCV000739843 | benign | Cardiovascular phenotype | 2013-02-26 | 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 |
Gene |
RCV001711992 | SCV001939429 | benign | not provided | 2021-05-06 | criteria provided, single submitter | clinical testing |