ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2979G>T (p.Gln993His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV001290974 SCV001479322 likely pathogenic Sudden cardiac death 2020-07-14 criteria provided, single submitter clinical testing PS2-PM2-PP2

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