Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151555 | SCV000199692 | uncertain significance | not specified | 2013-09-09 | criteria provided, single submitter | clinical testing | The Asn42Ser variant in NEBL has not been reported in individuals with cardiomyo pathy or in large population studies. Computational analyses are limited or unav ailable for this variant. Additional information is needed to fully assess the c linical significance this variant. |