Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000604736 | SCV000731424 | likely benign | not specified | 2017-02-07 | criteria provided, single submitter | clinical testing | c.1330-7C>T in intron 12 of MYH14: This variant is not expected to have clinical significance because a C>T/T>C change at this position does not diverge from th e splice consensus sequence and is therefore unlikely to impact splicing. |