ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) (rs121912292)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012340 SCV000032574 pathogenic Dyskeratosis congenita X-linked 1998-05-01 no assertion criteria provided literature only
GeneReviews RCV000012340 SCV000055778 pathologic Dyskeratosis congenita X-linked 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
UniProtKB/Swiss-Prot RCV000012340 SCV000090821 not provided Dyskeratosis congenita X-linked no assertion provided not provided

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