Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039381 | SCV000063065 | likely benign | not specified | 2012-07-18 | criteria provided, single submitter | clinical testing | 297+13G>A in intron 03 of TMEM43: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. 297+13G>A in intron 03 of TMEM43 (allele frequency= n/a) |