ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1669-6C>G

gnomAD frequency: 0.00002  dbSNP: rs561096787
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Total submissions: 5
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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, Department of Genetics, University Medical Center Groningen RCV000603729 SCV000734448 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001698769 SCV001917077 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001725192 SCV001959997 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725192 SCV001975338 likely benign not provided no assertion criteria provided clinical testing

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