ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) (rs28936072)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000055631 SCV000032585 pathogenic Dyskeratosis congenita X-linked 2002-12-01 no assertion criteria provided literature only
GeneReviews RCV000012351 SCV000055772 pathologic Hoyeraal Hreidarsson syndrome 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
UniProtKB/Swiss-Prot RCV000055631 SCV000090819 not provided Dyskeratosis congenita X-linked no assertion provided not provided

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