ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.-3G>A

dbSNP: rs896428658
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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 RCV001189328 SCV001356593 uncertain significance Cardiomyopathy 2019-12-23 criteria provided, single submitter clinical testing This variant changes c.G to c.A in the 5' untranslated region of the DSG2 protein. 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.
AiLife Diagnostics, AiLife Diagnostics RCV002224013 SCV002502104 uncertain significance not provided 2022-02-23 criteria provided, single submitter clinical testing

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