ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2335-9T>C

gnomAD frequency: 0.00001  dbSNP: rs757355636
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272699 SCV000408247 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329631 SCV000408248 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769513 SCV000900908 uncertain significance Cardiomyopathy 2023-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001452466 SCV001656131 likely benign Arrhythmogenic right ventricular dysplasia 10 2020-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000907595 SCV001827379 likely benign not provided 2019-12-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000272699 SCV004815003 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-05-30 criteria provided, single submitter clinical testing

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