Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000603729 | SCV002155536 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-04-06 | criteria provided, single submitter | clinical testing | 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. 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. This variant has not been reported in the literature in individuals with LAMA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 518374). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 13 of the LAMA4 gene. It does not directly change the encoded amino acid sequence of the LAMA4 protein. |
Diagnostic Laboratory, |
RCV000603729 | SCV000734448 | likely benign | Dilated cardiomyopathy 1JJ | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001698769 | SCV001917077 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001725192 | SCV001959997 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001725192 | SCV001975338 | likely benign | not provided | no assertion criteria provided | clinical testing |