Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219837 | SCV000270422 | likely benign | not specified | 2015-03-23 | criteria provided, single submitter | clinical testing | c.1791-10_1791-8delinsCCT in intron 18 of MYBPC3: This variant is not expected t o have clinical significance because this variant results in a T>C at position c .1791-10 and a C>T change at position c.1791-8 and these changes do not diverge from the splice consensus sequence and are therefore unlikely to impact splicing . |
Color Diagnostics, |
RCV001187401 | SCV001354203 | likely benign | Cardiomyopathy | 2019-12-29 | criteria provided, single submitter | clinical testing |