Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219214 | SCV000269357 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 290+14C>G in intron 2 of MYOM1: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 35.1% (1424/4058) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs7232679). |
Gene |
RCV001675676 | SCV001893161 | benign | not provided | 2018-09-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002057077 | SCV002474645 | benign | Hypertrophic cardiomyopathy | 2024-02-01 | criteria provided, single submitter | clinical testing |