ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.106T>G (p.Phe36Val)

dbSNP: rs121912293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012338 SCV000032572 pathogenic Dyskeratosis congenita, X-linked 1998-05-01 no assertion criteria provided literature only
GeneReviews RCV000012338 SCV000055769 not provided Dyskeratosis congenita, X-linked no assertion provided literature only
UniProtKB/Swiss-Prot RCV000012338 SCV000090818 not provided Dyskeratosis congenita, X-linked no assertion provided not provided

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