Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216769 | SCV000269362 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 4069+13C>A in intron 28 of MYOM1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 20.3% (1647/8114) of European American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs948298). |
Invitae | RCV002057078 | SCV002371218 | benign | Hypertrophic cardiomyopathy | 2024-02-01 | criteria provided, single submitter | clinical testing |