ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.883-15C>A

gnomAD frequency: 0.00001  dbSNP: rs727504984
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156399 SCV000206117 uncertain significance not specified 2014-03-12 criteria provided, single submitter clinical testing The 883-15C>A variant in TMEM43 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. Ad ditional information is needed to fully assess the clinical significance of the variant.

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