ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2250+2T>C (rs1064793731)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484544 SCV000566891 pathogenic not provided 2015-06-26 criteria provided, single submitter clinical testing Although the c.2250+2T>C variant in the DSC2 gene has not been published previously, to ourknowledge, other canonical splice donor variants which are known to be pathogenic have been reportedin DSC2 in association with arrhythmogenic right ventricular dysplasia (Stenson et al., 2014). Based on theACMG recommendations, c.2250+2T>C is interpreted as a pathogenic variant.

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