Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151535 | SCV000199655 | uncertain significance | not specified | 2013-11-14 | criteria provided, single submitter | clinical testing | The Ala635Val variant in NEBL has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide s trong support for or against an impact to the normal function of the protein. Ad ditional information is needed to fully assess the clinical significance of this variant. |