Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037341 | SCV000060998 | uncertain significance | not specified | 2012-06-11 | criteria provided, single submitter | clinical testing | The 195+4_195+5delCA variant in LAMA4 has not been reported in the literature no r previously identified by our laboratory. This variant is located in the 5' spl ice region, but computational tools do not suggest an obvious impact to splicing . However, this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of th is variant. |