ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.942+16A>T

dbSNP: rs111347888
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Total submissions: 2
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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 RCV000039447 SCV000063131 likely benign not specified 2012-08-09 criteria provided, single submitter clinical testing 942+13A>T in intron 7 of DSC2: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. 942+1 3A>T in intron 7 of DSC2 (allele frequency = n/a)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029666 SCV000052318 likely benign Cardiomyopathy 2015-10-02 no assertion criteria provided clinical testing

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