ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.1494_1496GAA[8] (p.Lys505dup) (rs782576893)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192917 SCV000247186 benign not specified 2015-10-14 criteria provided, single submitter clinical testing
Invitae RCV000228305 SCV000287048 benign Dyskeratosis congenita 2019-12-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615358 SCV000734771 likely benign Dyskeratosis congenita, X-linked no assertion criteria provided clinical testing

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