ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.1648C>T (p.Arg550Ter) (rs1554791943)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760495 SCV000890385 pathogenic not provided 2019-11-10 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31965297, 26757981, 29663678, 29209020)
GeneReviews RCV000591919 SCV000709749 pathogenic Desanto-shinawi syndrome 2017-08-28 no assertion criteria provided literature only

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