ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.81+16_81+17delinsTG

dbSNP: rs2144311694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539541 SCV001757328 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873818 SCV002294328 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2024-02-01 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the DSG2 gene. It does not directly change the encoded amino acid sequence of the DSG2 protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1182019). 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.

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