Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471958 | SCV000561245 | benign | Hypertrophic cardiomyopathy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000602825 | SCV000711573 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Thr387Ile in exon 8 of MYOM1: This variant is not expected to have clinical sign ificance because it has been identified in 1.1% (42/3744) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs189973743). |
Prevention |
RCV003960097 | SCV004780147 | benign | MYOM1-related condition | 2019-10-28 | 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). |