ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7593dup (p.Thr2532fs)

dbSNP: rs1805743392
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Oslo University Hospital RCV001263213 SCV001437575 likely pathogenic CHARGE association 2008-08-25 criteria provided, single submitter clinical testing

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