ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) (rs121912297)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032197 SCV000055788 pathologic Dyskeratosis congenita X-linked 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
UniProtKB/Swiss-Prot RCV000032197 SCV000090829 not provided Dyskeratosis congenita X-linked no assertion provided not provided

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