Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000150898 | SCV000170028 | benign | not specified | 2014-05-01 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000150898 | SCV000198482 | likely benign | not specified | 2011-06-21 | criteria provided, single submitter | clinical testing | -27C>T in KRAS 5'UTR (exon 1): The -27C>T variant in KRAS has not been previousl y reported in the literature nor been identified by our laboratory. This variant occurs in the 5' UTR. Although mutations in the 5' UTRs of genes have been show n to affect gene regulation, no pathogenic mutations in the 5' UTR of KRAS have been reported to date. Therefore, this variant is likely benign, although we ca nnot rule out that it could contribute to the clinical features observed in this individual. |