Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440584 | SCV000513494 | likely benign | not specified | 2017-06-16 | 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. |
Invitae | RCV000530832 | SCV000657827 | uncertain significance | Charcot-Marie-Tooth disease, type 2 | 2019-09-19 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 5 of the LMNA gene. It does not directly change the encoded amino acid sequence of the LMNA protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with cardiomyopathy (PMID: 28679633). ClinVar contains an entry for this variant (Variation ID: 66959). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Color | RCV000772012 | SCV000904968 | uncertain significance | Cardiomyopathy | 2019-08-15 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172638 | SCV001335701 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Epithelial Biology; Institute of Medical Biology, |
RCV000057488 | SCV000088602 | not provided | not provided | no assertion provided | not provided |