ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) (rs121912866)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726311 SCV000343669 pathogenic not provided 2018-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000726311 SCV001826062 pathogenic not provided 2020-01-13 criteria provided, single submitter clinical testing Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 17355; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); 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; This variant is associated with the following publications: (PMID: 1677770, 26747767)
OMIM RCV000018899 SCV000039183 pathogenic Stickler syndrome type 1 1991-08-01 no assertion criteria provided literature only

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