Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155796 | SCV000205507 | likely benign | not specified | 2013-11-21 | criteria provided, single submitter | clinical testing | *13C>T in the 3' UTR of LAMP2: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. It ha s been identified in 1/6728 European American chromosomes by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs377303143). *13C>T in the 3' UTR of LAMP2 (rs377303143, allele frequency = 1/6728) ** |
Gene |
RCV000155796 | SCV000728636 | benign | not specified | 2017-05-15 | 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. |