ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del) (rs782576893)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234537 SCV000287047 benign Dyskeratosis congenita 2019-12-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000395921 SCV000331963 likely benign not specified 2015-06-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000395921 SCV000594373 uncertain significance not specified 2015-09-24 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000758194 SCV000886724 likely benign Dyskeratosis congenita, X-linked 2019-01-23 criteria provided, single submitter clinical testing

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