ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.-15G>A

gnomAD frequency: 0.00001  dbSNP: rs727502982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001188343 SCV001355380 uncertain significance Cardiomyopathy 2019-12-23 criteria provided, single submitter clinical testing This variant causes a single nucleotide substitution in the 5' untranslated region of the DSG2 gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150532 SCV000197742 not provided not specified 2013-03-25 no assertion provided clinical testing

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