ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.472C>T (p.Arg158Trp)

dbSNP: rs199422246
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079663 SCV000111546 uncertain significance not provided 2012-11-05 criteria provided, single submitter clinical testing
GeneReviews RCV000032201 SCV000055793 not provided Dyskeratosis congenita, X-linked no assertion provided literature only

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