Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213686 | SCV000269367 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 4685+11G>T in intron 35 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 46.3% (3809/8224) of European American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs2298539). |
Gene |
RCV001651075 | SCV001871229 | benign | not provided | 2018-09-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054384 | SCV002322272 | benign | Hypertrophic cardiomyopathy | 2024-02-01 | criteria provided, single submitter | clinical testing |