Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151181 | SCV000199003 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | c.693+12C>T in intron 5 of MYH14: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 1/3468 African American chromosomes by the NHLB I Exome Sequencing Project (http://evs.gs.washington.edu/EVS). |
Invitae | RCV002055984 | SCV002446321 | likely benign | not provided | 2023-08-19 | criteria provided, single submitter | clinical testing |