ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu)

dbSNP: rs281865547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439983 SCV000521363 likely pathogenic not provided 2020-02-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21205863)
OMIM RCV000034152 SCV000045256 pathogenic Dyskeratosis congenita, autosomal recessive 3 2011-01-01 no assertion criteria provided literature only
GeneReviews RCV000034152 SCV000058089 not provided Dyskeratosis congenita, autosomal recessive 3 no assertion provided literature only

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