Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151205 | SCV000199036 | likely benign | not specified | 2013-11-22 | criteria provided, single submitter | clinical testing | 5128-12C>T in Intron 36 of MYH14: This variant is not expected to have clinical significance because it does not diverge from the splice consensus sequence and computational prediction tools do not suggest an impact to splicing. This varian t has been identified in 1/4148 (0.02%) African American chromosomes by the NHLB I Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs372261958 ). |