Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV000999611 | SCV001156315 | uncertain significance | Hypertrophic cardiomyopathy | 2018-10-15 | criteria provided, single submitter | research | MYOM1 Tyr580Leufs*10 has not been previously reported and is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in HCM proband with no family history of disease. Based on this information we classify this as a variant of 'uncertain significance'. |